chr10:89711909:A>G Detail (hg19) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,711,909-89,711,909
hg38 chr10:87,952,152-87,952,152 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001304718.1:c.527A>G NP_001291647.1:p.Tyr176Cys
NM_000314.6:c.527A>G NP_000305.3:p.Tyr176Cys
NM_001304717.2:c.527A>G NP_001291646.2:p.Tyr176Cys
Summary

MGeND

Clinical significance
Variant entry
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 Conflicting classifications of pathogenicity
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-01-11 criteria provided, multiple submitters, no conflicts PTEN hamartoma tumor syndrome germline Detail
Uncertain significance 2022-07-28 criteria provided, single submitter not provided germline Detail
Conflicting interpretations of pathogenicity 2022-10-17 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-07-01 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.527A>G (p.Tyr176Cys) AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys) AND not provided ClinVar Detail
NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys) 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
rs757498880 dbSNP
Genome
hg19
Position
chr10:89,711,909-89,711,909
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3110700254217703E-4
Chromosome Counts in All Race (ExAC)
121320
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6485328058028356E-5
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