chr10:89624276:AA> Detail (hg19) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,624,276-89,624,277
hg38 chr10:87,864,519-87,864,520 

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.50_51delAA NP_000305.3:p.Gln17ArgfsTer26
NM_001304717.2:c.50_51delAA NP_001291646.2:p.Gln17ArgfsTer26
NM_001304718.1:c.50_51delAA NP_001291647.1:p.Gln17ArgfsTer26
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 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 COSM6983660 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-10-09 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2015-01-19 criteria provided, single submitter not provided germline Detail
Pathogenic 2017-10-18 reviewed by expert panel PTEN hamartoma tumor syndrome germline Detail
Pathogenic 2023-11-02 criteria provided, single submitter Cowden syndrome 1 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.50_51del (p.Gln17fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000314.8(PTEN):c.50_51del (p.Gln17fs) AND not provided ClinVar Detail
NM_000314.8(PTEN):c.50_51del (p.Gln17fs) AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.50_51del (p.Gln17fs) AND Cowden syndrome 1 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
rs587781912 dbSNP
Genome
hg19
Position
chr10:89,624,276-89,624,277
Variant Type
snv
Reference Allele
AA
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8654
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)
121412
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)
8.236418146476461E-6
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