chr10:89711900:G>A Detail (hg19) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,711,900-89,711,900
hg38 chr10:87,952,143-87,952,143 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.518G>A NP_000305.3:p.Arg173His
NM_001304717.2:c.518G>A NP_001291646.2:p.Arg173His
NM_001304718.1:c.518G>A NP_001291647.1:p.Arg173His
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 9
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 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 COSM5039 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 body of stomach not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 caecum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 descending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 colon, unspecified not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 caecum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided Neoplasm of ovary (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
Pathogenic 2020/04/20 malignant neoplasm of rectosigmoid junction not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2015-07-14 no assertion criteria provided Neoplasm of brain somatic Detail
Pathogenic 2022-12-12 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic Likely pathogenic 2023-12-09 criteria provided, multiple submitters, no conflicts PTEN hamartoma tumor syndrome germline maternal paternal Detail
Pathogenic Likely pathogenic 2023-09-28 criteria provided, multiple submitters, no conflicts Cowden syndrome 1 germline unknown Detail
Likely pathogenic 2023-04-27 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline 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.518G>A (p.Arg173His) AND Neoplasm of brain ClinVar Detail
NM_000314.8(PTEN):c.518G>A (p.Arg173His) AND not provided ClinVar Detail
NM_000314.8(PTEN):c.518G>A (p.Arg173His) AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.518G>A (p.Arg173His) AND Cowden syndrome 1 ClinVar Detail
NM_000314.8(PTEN):c.518G>A (p.Arg173His) AND Hereditary cancer-predisposing syndrome 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
rs121913294 dbSNP
Genome
hg19
Position
chr10:89,711,900-89,711,900
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8652
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)
121292
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.244566830458728E-6
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