chr10:89717777:G>A Detail (hg19) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,717,777-89,717,777
hg38 chr10:87,958,020-87,958,020 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.801+1G>A
NM_001304717.2:c.801+1G>A
NM_001304718.1:c.801+1G>A
Summary

MGeND

Clinical significance Likely 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
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic malignant neoplasm of corpus uteri germline MGS000091
(TMGS000180) 		Yukihide Momozawa RIKEN 39663357
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-06-21 criteria provided, single submitter not provided germline Detail
Pathogenic 2021-04-23 criteria provided, single submitter PTEN hamartoma tumor syndrome germline Detail
Likely pathogenic 2023-09-29 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.801+1G>A AND not provided ClinVar Detail
NM_000314.8(PTEN):c.801+1G>A AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.801+1G>A AND Cowden syndrome 1 ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs786204873 dbSNP
Genome
hg19
Position
chr10:89,717,777-89,717,777
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser