chr10:87952142:C>T Detail (hg38) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,711,899-89,711,899 View the variant detail on this assembly version.
hg38 chr10:87,952,142-87,952,142

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.517C>T NP_000305.3:p.Arg173Cys
NM_001304717.2:c.517C>T NP_001291646.2:p.Arg173Cys
NM_001304718.1:c.517C>T NP_001291647.1:p.Arg173Cys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 tgv369069083 TogoVar
COSMIC COSM5089 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic endometrial carcinomas somatic MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
Pathogenic clear cell carcinoma somatic MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-06-01 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-06-09 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Neoplasm of brain somatic Detail
Pathogenic 2017-10-18 reviewed by expert panel PTEN hamartoma tumor syndrome de novo unknown germline Detail
Pathogenic 2012-02-12 no assertion criteria provided not specified germline Detail
Pathogenic 2017-12-31 criteria provided, single submitter Cowden syndrome 1,VACTERL with hydrocephalus,macrocephaly-autism syndrome germline Detail
Pathogenic 2017-12-31 criteria provided, single submitter Cowden syndrome 1,VACTERL with hydrocephalus,macrocephaly-autism syndrome germline Detail
Pathogenic 2017-12-31 criteria provided, single submitter Cowden syndrome 1,VACTERL with hydrocephalus,macrocephaly-autism syndrome germline Detail
Pathogenic Likely pathogenic 2023-09-28 criteria provided, multiple submitters, no conflicts Cowden syndrome 1 unknown germline Detail
Pathogenic criteria provided, single submitter de novo Detail
Pathogenic 2021-10-20 criteria provided, single submitter macrocephaly-autism syndrome,Glioma susceptibility 2,Malignant tumor of prostate,familial meningioma,Cowden syndrome 1 unknown Detail
Pathogenic 2021-10-20 criteria provided, single submitter macrocephaly-autism syndrome,Glioma susceptibility 2,Malignant tumor of prostate,familial meningioma,Cowden syndrome 1 unknown Detail
Pathogenic 2021-10-20 criteria provided, single submitter macrocephaly-autism syndrome,Glioma susceptibility 2,Malignant tumor of prostate,familial meningioma,Cowden syndrome 1 unknown Detail
Pathogenic 2021-10-20 criteria provided, single submitter macrocephaly-autism syndrome,Glioma susceptibility 2,Malignant tumor of prostate,familial meningioma,Cowden syndrome 1 unknown Detail
Pathogenic 2021-10-20 criteria provided, single submitter macrocephaly-autism syndrome,Glioma susceptibility 2,Malignant tumor of prostate,familial meningioma,Cowden syndrome 1 unknown Detail
Pathogenic 2023-12-04 no assertion criteria provided Malignant lymphoma, large B-cell, diffuse somatic Detail
Pathogenic 2023-02-07 criteria provided, single submitter Glioma susceptibility 2 unknown Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer D Predisposing Supports Uncertain Significance N/A 3 10866302 Detail
endometrial hyperplasia E Predisposing Supports Uncertain Significance Somatic 1 9635567 Detail
PTEN hamartoma tumor syndrome C Predisposing Supports Uncertain Significance Rare Germline 3 22628360 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
Han et al functionally tested the R173C mutation in PTEN using an expression vector construct, asses... CIViC Evidence Detail
Maxwell et al identified R173C in 1 subject (of 51 endometrial hyperplasias assayed for mutations in... CIViC Evidence Detail
Hopman et al presents a case study with an affected proband carrying PTEN R173C, and meeting the ped... CIViC Evidence Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND not provided ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND Neoplasm of brain ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND not specified ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND Cowden syndrome 1 ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND Neurodevelopmental delay ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) AND Malignant lymphoma, large B-cell, diffuse ClinVar Detail
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) 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
rs121913293 dbSNP
Genome
hg38
Position
chr10:87,952,142-87,952,142
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
R173C
Transcript 1 (CIViC Variant)
ENST00000371953.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/838
Genome browser