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chr13:32914766 CTT>C

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.6275_6276del
Proteinp.L2092fs
Functionframeshift del
Localizationexon
hg19chr13:32914766 CTT>C
dbSNPrs11571658

Frequency in gnomAD

GenomeExome
MAX0.000066710.00006246
AFR00
AMR00.00006246
ASJ00
EAS00
FIN00.00004562
NFE0.000066710.00004577
SAS–0

ClinVar

IDPhenotypeEffect
RCV000009903.15Breast-ovarian cancer, familial 2Pathogenic
RCV000044884.11Hereditary breast and ovarian cancer syndromePathogenic
RCV000131029.5Hereditary cancer-predisposing syndromePathogenic
RCV000160300.5not providedPathogenic

HGMD

IDPhenotypeEffect
CD951627Breast cancerDM