chr1:43349338:G>T Detail (hg38) (MPL)

Information

Genome

Assembly Position
hg19 chr1:43,815,009-43,815,009 View the variant detail on this assembly version.
hg38 chr1:43,349,338-43,349,338

HGVS

Type Transcript Protein
RefSeq NM_005373.2:c.1544G>T NP_005364.1:p.Trp515Leu
Ensemble ENST00000372470.9:c.1544G>T ENST00000372470.9:p.Trp515Leu
ENST00000413998.7:c.1523G>T ENST00000413998.7:p.Trp508Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 159530 OMIM
HGNC 7217 HGNC
Ensembl ENSG00000117400 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM3719407 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2006-11-15 no assertion criteria provided Myelofibrosis with myeloid metaplasia somatic Detail
Pathogenic 2006-11-15 no assertion criteria provided Thrombocythemia 2, somatic somatic Detail
Likely pathogenic 2014-12-26 no assertion criteria provided Hematologic neoplasm somatic Detail
Pathogenic 2016-10-14 criteria provided, single submitter congenital amegakaryocytic thrombocytopenia germline Detail
Uncertain significance 2023-06-23 criteria provided, single submitter congenital amegakaryocytic thrombocytopenia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.289 Thrombocythemia, Essential We developed a novel multiplexed allele-specific PCR assay capable of detecting ... BeFree 23994117 Detail
0.248 Thrombocythemia, Essential To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential t... BeFree 20113333 Detail
0.003 Primary myelofibrosis To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential t... BeFree 20113333 Detail
0.051 Primary myelofibrosis We developed a novel multiplexed allele-specific PCR assay capable of detecting ... BeFree 23994117 Detail
<0.001 Primary myelofibrosis DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane ... BeFree 16834459 Detail
0.009 polycythemia vera In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.008 Chronic myeloproliferative disorder Rapid real-time PCR assay for detection of MPL W515L mutation in patients with c... BeFree 19016916 Detail
0.051 Primary myelofibrosis Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the rece... BeFree 18669880 Detail
0.051 Primary myelofibrosis Histopathological categories ET and prefibrotic PMF correlate with significant d... BeFree 19616600 Detail
0.051 Primary myelofibrosis Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the rece... BeFree 19274616 Detail
<0.001 myelodysplastic syndrome We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplasti... BeFree 18479730 Detail
<0.001 anemia When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, t... BeFree 17408465 Detail
0.289 Thrombocythemia, Essential The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W5... BeFree 17920754 Detail
0.289 Thrombocythemia, Essential One patient with the MPL W515L was identified with a clinical picture of ET. BeFree 25637689 Detail
0.008 Chronic myeloproliferative disorder Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that ... BeFree 18479730 Detail
0.289 Thrombocythemia, Essential The activating W515L mutation in the thrombopoietin receptor (MPL) has been iden... BeFree 19261614 Detail
0.051 Primary myelofibrosis Screening and monitoring of MPL W515L mutation with real-time PCR in patients wi... BeFree 20062088 Detail
0.364 myelofibrosis NA CLINVAR Detail
0.248 Thrombocythemia, Essential Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the rece... BeFree 18669880 Detail
<0.001 Down syndrome In three cases (25%), MPL(W515L) was found and in two of these a combination wit... BeFree 19194467 Detail
0.051 Primary myelofibrosis Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myel... BeFree 17709604 Detail
0.037 Myeloproliferative disease To investigate its prevalence in Chinese patients with MPD, we introduced allele... BeFree 18464114 Detail
0.002 Myeloproliferative disease As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive ... BeFree 18464114 Detail
0.352 Myeloproliferative disease As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive ... BeFree 18464114 Detail
0.004 polycythemia vera In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.051 Primary myelofibrosis MPL W515L mutation was found to be harbored in only one of 102 patients, who had... BeFree 18464114 Detail
0.352 Myeloproliferative disease Scanning of JAK2 exons 12-25 and MPL exon 10 revealed the presence of JAK2 alter... BeFree 19643476 Detail
0.139 thrombocytosis In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.462 Thrombocythemia, Essential Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MP... BeFree 21228032 Detail
0.364 myelofibrosis Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myel... BeFree 17709604 Detail
0.008 Thrombocythemia, Essential In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.289 Thrombocythemia, Essential Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the rece... BeFree 19274616 Detail
0.001 anemia When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, t... BeFree 17408465 Detail
0.289 Thrombocythemia, Essential MPL W515L mutation was found to be harbored in only one of 102 patients, who had... BeFree 18464114 Detail
0.364 myelofibrosis DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane ... BeFree 16834459 Detail
0.005 leukemia We conclude that MPL(W515L) occurs in a considerable proportion of acute megakar... BeFree 19194467 Detail
0.120 Thrombocythemia 2 MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid me... UNIPROT 16834459 Detail
0.008 Chronic myeloproliferative disorder MPL W515L/K mutations in 343 Chinese adults with JAK2V617F mutation-negative chr... BeFree 19274616 Detail
<0.001 Chronic myeloproliferative disorder Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that ... BeFree 18479730 Detail
0.005 Thrombocythemia, Essential In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.046 Chronic myeloproliferative disorder Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that ... BeFree 18479730 Detail
0.289 Thrombocythemia, Essential MPL(W515L) was found in 3% of ET and 8% of PMF, with a significantly higher perc... BeFree 19616600 Detail
0.248 Thrombocythemia, Essential Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the rece... BeFree 19274616 Detail
0.289 Thrombocythemia, Essential MPL W515L mutation in pediatric essential thrombocythemia. BeFree 23441089 Detail
<0.001 Chronic myeloproliferative disorder Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that ... BeFree 18479730 Detail
0.146 polycythemia vera In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.289 Thrombocythemia, Essential JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocy... BeFree 20890078 Detail
<0.001 Chronic myeloproliferative disorder Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the rece... BeFree 18669880 Detail
0.051 Primary myelofibrosis The other three cases of PMF with 1p uniparental disomy had point mutations of t... BeFree 18723266 Detail
0.164 thrombocytosis In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.289 Thrombocythemia, Essential Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the rece... BeFree 18669880 Detail
0.051 Primary myelofibrosis We conclude that MPL(W515L) occurs in a considerable proportion of acute megakar... BeFree 19194467 Detail
0.051 Primary myelofibrosis The activating W515L mutation in the thrombopoietin receptor (MPL) has been iden... BeFree 19261614 Detail
0.008 Chronic myeloproliferative disorder Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the rece... BeFree 18669880 Detail
0.146 polycythemia vera MPL W515L mutation was found to be harbored in only one of 102 patients, who had... BeFree 18464114 Detail
0.051 Primary myelofibrosis DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane ... BeFree 16834459 Detail
<0.001 Preleukemia We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplasti... BeFree 18479730 Detail
0.003 Myeloid Leukemia, Chronic MPL W515L mutation was found to be harbored in only one of 102 patients, who had... BeFree 18464114 Detail
0.364 myelofibrosis We conclude that MPL(W515L) occurs in a considerable proportion of acute megakar... BeFree 19194467 Detail
<0.001 myelofibrosis DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane ... BeFree 16834459 Detail
0.462 Thrombocythemia, Essential JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocy... BeFree 20890078 Detail
0.364 myelofibrosis Screening and monitoring of MPL W515L mutation with real-time PCR in patients wi... BeFree 20062088 Detail
0.003 Primary myelofibrosis Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the rece... BeFree 19274616 Detail
0.003 Primary myelofibrosis Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the rece... BeFree 18669880 Detail
0.462 Thrombocythemia, Essential The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W5... BeFree 17920754 Detail
0.289 Thrombocythemia, Essential Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MP... BeFree 21228032 Detail
0.002 thrombocytosis In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) AND Myelofibrosis with myeloid metaplasia ClinVar Detail
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) AND Thrombocythemia 2, somatic ClinVar Detail
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) AND Hematologic neoplasm ClinVar Detail
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) AND Congenital amegakaryocytic thrombocytopenia ClinVar Detail
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) AND multiple conditions ClinVar Detail
We developed a novel multiplexed allele-specific PCR assay capable of detecting most recurrent MPL e... DisGeNET Detail
To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) ... DisGeNET Detail
To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) ... DisGeNET Detail
We developed a novel multiplexed allele-specific PCR assay capable of detecting most recurrent MPL e... DisGeNET Detail
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
Rapid real-time PCR assay for detection of MPL W515L mutation in patients with chronic myeloprolifer... DisGeNET Detail
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoie... DisGeNET Detail
Histopathological categories ET and prefibrotic PMF correlate with significant differences in mutant... DisGeNET Detail
Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoie... DisGeNET Detail
We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had a... DisGeNET Detail
When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPL(W515L/... DisGeNET Detail
The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been id... DisGeNET Detail
One patient with the MPL W515L was identified with a clinical picture of ET. DisGeNET Detail
Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myel... DisGeNET Detail
The activating W515L mutation in the thrombopoietin receptor (MPL) has been identified in primary my... DisGeNET Detail
Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis und... DisGeNET Detail
NA DisGeNET Detail
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoie... DisGeNET Detail
In three cases (25%), MPL(W515L) was found and in two of these a combination with trisomy 21 or the ... DisGeNET Detail
Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis. DisGeNET Detail
To investigate its prevalence in Chinese patients with MPD, we introduced allele-specific PCR (AS-PC... DisGeNET Detail
As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive cytokine-independent... DisGeNET Detail
As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive cytokine-independent... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocy... DisGeNET Detail
Scanning of JAK2 exons 12-25 and MPL exon 10 revealed the presence of JAK2 alterations in six and MP... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). DisGeNET Detail
Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis. DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoie... DisGeNET Detail
When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPL(W515L/... DisGeNET Detail
MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocy... DisGeNET Detail
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL... DisGeNET Detail
We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias... DisGeNET Detail
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. DisGeNET Detail
MPL W515L/K mutations in 343 Chinese adults with JAK2V617F mutation-negative chronic myeloproliferat... DisGeNET Detail
Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myel... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myel... DisGeNET Detail
MPL(W515L) was found in 3% of ET and 8% of PMF, with a significantly higher percentage of mutated al... DisGeNET Detail
Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoie... DisGeNET Detail
MPL W515L mutation in pediatric essential thrombocythemia. DisGeNET Detail
Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myel... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia. DisGeNET Detail
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoie... DisGeNET Detail
The other three cases of PMF with 1p uniparental disomy had point mutations of the MPL gene, either ... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoie... DisGeNET Detail
We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias... DisGeNET Detail
The activating W515L mutation in the thrombopoietin receptor (MPL) has been identified in primary my... DisGeNET Detail
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoie... DisGeNET Detail
MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocy... DisGeNET Detail
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL... DisGeNET Detail
We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had a... DisGeNET Detail
MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocy... DisGeNET Detail
We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias... DisGeNET Detail
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL... DisGeNET Detail
JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia. DisGeNET Detail
Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis und... DisGeNET Detail
Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoie... DisGeNET Detail
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoie... DisGeNET Detail
The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been id... DisGeNET Detail
Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121913615 dbSNP
Genome
hg38
Position
chr1:43,349,338-43,349,338
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121210
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6500288755053215E-5
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