chr17:41245845 G>A

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.1703C>T

Proteinp.P568L

Functionmissense

Localizationexon

hg19chr17:41245845 G>A

NM_007297.3c.1562C>Tp.P521L

NM_007300.3c.1703C>Tp.P568L

NM_007298.3c.787+916C>T

NM_007299.3c.787+916C>T

NR_027676.1n.1839C>T

MAX––

AFR––

AMR––

ASJ––

EAS––

FIN––

NFE––

SAS––

RCV000443568.2not specifiedConflicting interpretations of pathogenicity

RCV000588961.1not providedVUS

RCV000047564.7Hereditary breast and ovarian cancer syndromeLikely benign

RCV000131307.4Hereditary cancer-predisposing syndromeLikely benign

RCV000083171.4Breast-ovarian cancer, familial 1Conflicting interpretations of pathogenicity

CM1619488Breast and/or ovarian cancerDM?