chr10:89692980:A>G Detail (hg19) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,692,980-89,692,980
hg38 chr10:87,933,223-87,933,223 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.464A>G NP_000305.3:p.Tyr155Cys
NM_001304717.2:c.464A>G NP_001291646.2:p.Tyr155Cys
NM_001304718.1:c.464A>G NP_001291647.1:p.Tyr155Cys
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 3
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
COSMIC COSM5144 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Pathogenic 2021/03/19 control germline MGS000047
(TMGS000111) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
not provided stomach, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-11-22 reviewed by expert panel PTEN hamartoma tumor syndrome germline unknown Detail
Conflicting interpretations of pathogenicity 2023-09-28 criteria provided, conflicting interpretations Cowden syndrome 1 de novo inherited unknown Detail
Pathogenic 2021-03-09 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-04-27 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Likely pathogenic 2019-01-14 criteria provided, single submitter PTEN hamartoma tumor syndromes germline Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic 2023-05-25 criteria provided, single submitter macrocephaly-autism syndrome,Cowden syndrome 1 germline Detail
Pathogenic 2023-05-25 criteria provided, single submitter macrocephaly-autism syndrome,Cowden syndrome 1 germline Detail
Pathogenic 2023-09-12 criteria provided, single submitter Glioma susceptibility 2 unknown Detail
Pathogenic 2024-02-01 criteria provided, single submitter papillary tumor of the pineal region germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND Cowden syndrome 1 ClinVar Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND not provided ClinVar Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND PTEN hamartoma tumor syndromes ClinVar Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND Gastric cancer ClinVar Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND Glioma susceptibility 2 ClinVar Detail
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND Papillary tumor of the pineal region ClinVar 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
rs1060500126 dbSNP
Genome
hg19
Position
chr10:89,692,980-89,692,980
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser