chr10:87925550:T>C Detail (hg38) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,685,307-89,685,307 View the variant detail on this assembly version.
hg38 chr10:87,925,550-87,925,550

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.202T>C NP_000305.3:p.Tyr68His
NM_001304717.2:c.202T>C NP_001291646.2:p.Tyr68His
NM_001304718.1:c.202T>C NP_001291647.1:p.Tyr68His
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 tgv215206868 TogoVar
COSMIC COSM5036 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
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-08-01 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2021-11-22 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic 2023-09-26 criteria provided, multiple submitters, no conflicts Cowden syndrome 1 germline unknown Detail
Pathogenic 2023-11-02 criteria provided, single submitter PTEN hamartoma tumor syndrome germline Detail
Likely pathogenic 2021-11-24 criteria provided, single submitter Glioma susceptibility 2,Malignant tumor of prostate,macrocephaly-autism syndrome,familial meningioma,Cowden syndrome 1 unknown Detail
Likely pathogenic 2021-11-24 criteria provided, single submitter Glioma susceptibility 2,Malignant tumor of prostate,macrocephaly-autism syndrome,familial meningioma,Cowden syndrome 1 unknown Detail
Likely pathogenic 2021-11-24 criteria provided, single submitter Glioma susceptibility 2,Malignant tumor of prostate,macrocephaly-autism syndrome,familial meningioma,Cowden syndrome 1 unknown Detail
Likely pathogenic 2021-11-24 criteria provided, single submitter Glioma susceptibility 2,Malignant tumor of prostate,macrocephaly-autism syndrome,familial meningioma,Cowden syndrome 1 unknown Detail
Likely pathogenic 2021-11-24 criteria provided, single submitter Glioma susceptibility 2,Malignant tumor of prostate,macrocephaly-autism syndrome,familial meningioma,Cowden syndrome 1 unknown Detail
Pathogenic 2022-10-25 criteria provided, multiple submitters, no conflicts macrocephaly-autism syndrome germline maternal Detail
not provided no assertion provided macrocephaly-autism syndrome,Cowden syndrome 1 unknown Detail
not provided no assertion provided macrocephaly-autism syndrome,Cowden syndrome 1 unknown Detail
Pathogenic 2023-05-28 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.202T>C (p.Tyr68His) AND not provided ClinVar Detail
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) AND Cowden syndrome 1 ClinVar Detail
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) AND Macrocephaly-autism syndrome ClinVar Detail
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) 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
rs398123317 dbSNP
Genome
hg38
Position
chr10:87,925,550-87,925,550
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser