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chr13:32936733 A>T

Annotations

GeneBRCA2
TranscriptNM_000059.3
cDNAc.7879A>T
Proteinp.I2627F
Functionmissense
Localizationexon
hg19chr13:32936733 A>T
dbSNPrs80359014

Frequency in gnomAD

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

ClinVar

IDPhenotypeEffect
RCV000077415.5Breast-ovarian cancer, familial 2Pathogenic
RCV000045337.4Hereditary breast and ovarian cancer syndromePathogenic/Likely pathogenic
RCV000131675.6Hereditary cancer-predisposing syndromePathogenic/Likely pathogenic
RCV000218666.4not providedPathogenic

HGMD

IDPhenotypeEffect
CM074073Breast and/or ovarian cancerDM