chr10:87960984:C>G Detail (hg38) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,720,741-89,720,741 View the variant detail on this assembly version.
hg38 chr10:87,960,984-87,960,984

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.892C>G NP_000305.3:p.Gln298Glu
NM_001304717.2:c.892C>G NP_001291646.2:p.Gln298Glu
NM_001304718.1:c.892C>G NP_001291647.1:p.Gln298Glu
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 Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601728 OMIM
HGNC 9588 HGNC
Ensembl ENSG00000171862 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-05-04 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-04-05 criteria provided, multiple submitters, no conflicts Cowden syndrome 1 germline unknown Detail
Likely benign 2023-08-04 reviewed by expert panel PTEN hamartoma tumor syndrome germline Detail
Uncertain significance 2022-10-03 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2017-05-23 criteria provided, single submitter endometrial carcinoma,Bannayan-Riley-Ruvalcaba syndrome,Glioma susceptibility 2,macrocephaly-autism syndrome,Melanoma, cutaneous malignant, susceptibility to, 1,Thyroid cancer, nonmedullary, 2,Squamous cell carcinoma of the head and neck,Malignant tumor of prostate,familial meningioma,VACTERL with hydrocephalus,Cowden syndrome 1 unknown Detail
Uncertain significance 2017-05-23 criteria provided, single submitter endometrial carcinoma,Bannayan-Riley-Ruvalcaba syndrome,Glioma susceptibility 2,macrocephaly-autism syndrome,Melanoma, cutaneous malignant, susceptibility to, 1,Thyroid cancer, nonmedullary, 2,Squamous cell carcinoma of the head and neck,Malignant tumor of prostate,familial meningioma,VACTERL with hydrocephalus,Cowden syndrome 1 unknown Detail
Uncertain significance 2017-05-23 criteria provided, single submitter endometrial carcinoma,Bannayan-Riley-Ruvalcaba syndrome,Glioma susceptibility 2,macrocephaly-autism syndrome,Melanoma, cutaneous malignant, susceptibility to, 1,Thyroid cancer, nonmedullary, 2,Squamous cell carcinoma of the head and neck,Malignant tumor of prostate,familial meningioma,VACTERL with hydrocephalus,Cowden syndrome 1 unknown Detail
Uncertain significance 2017-05-23 criteria provided, single submitter endometrial carcinoma,Bannayan-Riley-Ruvalcaba syndrome,Glioma susceptibility 2,macrocephaly-autism syndrome,Melanoma, cutaneous malignant, susceptibility to, 1,Thyroid cancer, nonmedullary, 2,Squamous cell carcinoma of the head and neck,Malignant tumor of prostate,familial meningioma,VACTERL with hydrocephalus,Cowden syndrome 1 unknown Detail
Uncertain significance 2017-05-23 criteria provided, single submitter endometrial carcinoma,Bannayan-Riley-Ruvalcaba syndrome,Glioma susceptibility 2,macrocephaly-autism syndrome,Melanoma, cutaneous malignant, susceptibility to, 1,Thyroid cancer, nonmedullary, 2,Squamous cell carcinoma of the head and neck,Malignant tumor of prostate,familial meningioma,VACTERL with hydrocephalus,Cowden syndrome 1 unknown Detail
Uncertain significance 2017-05-23 criteria provided, single submitter endometrial carcinoma,Bannayan-Riley-Ruvalcaba syndrome,Glioma susceptibility 2,macrocephaly-autism syndrome,Melanoma, cutaneous malignant, susceptibility to, 1,Thyroid cancer, nonmedullary, 2,Squamous cell carcinoma of the head and neck,Malignant tumor of prostate,familial meningioma,VACTERL with hydrocephalus,Cowden syndrome 1 unknown Detail
Uncertain significance 2017-05-23 criteria provided, single submitter endometrial carcinoma,Bannayan-Riley-Ruvalcaba syndrome,Glioma susceptibility 2,macrocephaly-autism syndrome,Melanoma, cutaneous malignant, susceptibility to, 1,Thyroid cancer, nonmedullary, 2,Squamous cell carcinoma of the head and neck,Malignant tumor of prostate,familial meningioma,VACTERL with hydrocephalus,Cowden syndrome 1 unknown Detail
Uncertain significance 2017-05-23 criteria provided, single submitter endometrial carcinoma,Bannayan-Riley-Ruvalcaba syndrome,Glioma susceptibility 2,macrocephaly-autism syndrome,Melanoma, cutaneous malignant, susceptibility to, 1,Thyroid cancer, nonmedullary, 2,Squamous cell carcinoma of the head and neck,Malignant tumor of prostate,familial meningioma,VACTERL with hydrocephalus,Cowden syndrome 1 unknown Detail
Uncertain significance 2017-05-23 criteria provided, single submitter endometrial carcinoma,Bannayan-Riley-Ruvalcaba syndrome,Glioma susceptibility 2,macrocephaly-autism syndrome,Melanoma, cutaneous malignant, susceptibility to, 1,Thyroid cancer, nonmedullary, 2,Squamous cell carcinoma of the head and neck,Malignant tumor of prostate,familial meningioma,VACTERL with hydrocephalus,Cowden syndrome 1 unknown Detail
Uncertain significance 2017-05-23 criteria provided, single submitter endometrial carcinoma,Bannayan-Riley-Ruvalcaba syndrome,Glioma susceptibility 2,macrocephaly-autism syndrome,Melanoma, cutaneous malignant, susceptibility to, 1,Thyroid cancer, nonmedullary, 2,Squamous cell carcinoma of the head and neck,Malignant tumor of prostate,familial meningioma,VACTERL with hydrocephalus,Cowden syndrome 1 unknown Detail
Uncertain significance 2017-05-23 criteria provided, single submitter endometrial carcinoma,Bannayan-Riley-Ruvalcaba syndrome,Glioma susceptibility 2,macrocephaly-autism syndrome,Melanoma, cutaneous malignant, susceptibility to, 1,Thyroid cancer, nonmedullary, 2,Squamous cell carcinoma of the head and neck,Malignant tumor of prostate,familial meningioma,VACTERL with hydrocephalus,Cowden syndrome 1 unknown Detail
Uncertain significance 2022-09-08 criteria provided, single submitter not provided germline Detail
Uncertain significance no assertion criteria provided Familial ovarian cancer unknown Detail
Uncertain significance 2020-08-11 criteria provided, single submitter Familial cancer of breast germline Detail
Uncertain significance 2023-09-11 criteria provided, single submitter Glioma susceptibility 2 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND Cowden syndrome 1 ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND not specified ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND not provided ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND Familial ovarian cancer ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND Familial cancer of breast ClinVar Detail
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) AND Glioma susceptibility 2 ClinVar Detail
NA 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
rs371387815 dbSNP
Genome
hg38
Position
chr10:87,960,984-87,960,984
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8636
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)
121058
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)
1.6521006459713525E-5
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