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chr13:32937671 G>A

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.8331+1G>A
Protein
Functionsplicing
Localizationsplice site
hg19chr13:32937671 G>A
dbSNPrs81002837

Frequency in gnomAD

GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––

ClinVar

IDPhenotypeEffect
RCV000166511.1Hereditary cancer-predisposing syndromeLikely pathogenic
RCV000212272.1not providedPathogenic
RCV000031737.3Breast-ovarian cancer, familial 2Pathogenic

HGMD

IDPhenotypeEffect
CS114515Breast cancerDM