chr13:32316529:T>A Detail (hg38) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,890,666-32,890,666 View the variant detail on this assembly version.
hg38 chr13:32,316,529-32,316,529

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.67+2T>A
Ensemble ENST00000380152.8:c.67+2T>A
ENST00000530893.7:c.-303+6T>A
Summary

MGeND

Clinical significance
Variant entry
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 600185 OMIM
HGNC 1101 HGNC
Ensembl ENSG00000139618 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
Pathogenic 2003-02-24 no assertion criteria provided Breast-ovarian cancer, familial, susceptibility to, 2 germline Detail
Pathogenic 2023-03-09 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Breast-ovarian cancer, familial, susceptibility to, 2 NA CLINVAR Detail
0.174 Breast Cancer, Familial NA CLINVAR Detail
0.391 Hereditary Breast and Ovarian Cancer Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.67+2T>A AND Breast-ovarian cancer, familial, susceptibility to, 2 ClinVar Detail
NM_000059.4(BRCA2):c.67+2T>A AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs81002885 dbSNP
Genome
hg38
Position
chr13:32,316,529-32,316,529
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Genome browser