chr10:87933165:T>C Detail (hg38) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,692,922-89,692,922 View the variant detail on this assembly version.
hg38 chr10:87,933,165-87,933,165

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.406T>C NP_000305.3:p.Cys136Arg
NM_001304717.2:c.406T>C NP_001291646.2:p.Cys136Arg
NM_001304718.1:c.406T>C NP_001291647.1:p.Cys136Arg
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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 COSM5096 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic cowden disease germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-08-11 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2015-10-22 no assertion criteria provided Mediastinal germ cell tumor,Acute megakaryoblastic leukemia somatic Detail
Pathogenic 2015-10-22 no assertion criteria provided Mediastinal germ cell tumor,Acute megakaryoblastic leukemia somatic Detail
Pathogenic 2022-03-14 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-10-13 criteria provided, multiple submitters, no conflicts PTEN hamartoma tumor syndrome germline Detail
Pathogenic 2017-08-21 criteria provided, single submitter Cowden syndrome germline Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic Likely pathogenic 2023-09-27 criteria provided, multiple submitters, no conflicts Cowden syndrome 1 unknown germline Detail
Pathogenic 2022-03-17 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
0.120 Mediastinal germ cell tumor NA CLINVAR Detail
0.120 Acute Megakaryocytic Leukemias NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) AND not provided ClinVar Detail
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) AND Cowden syndrome ClinVar Detail
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) AND Neoplasm of ovary ClinVar Detail
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) AND Cowden syndrome 1 ClinVar Detail
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) AND Glioma susceptibility 2 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET 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
rs786201044 dbSNP
Genome
hg38
Position
chr10:87,933,165-87,933,165
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser