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rs397507239

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397507239(A;T)
Make rs397507239(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067614
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507239
ebirs397507239
HLIrs397507239
Exacrs397507239
Varsomers397507239
Maprs397507239
PheGenIrs397507239
hapmaprs397507239
1000 genomesrs397507239
hgdprs397507239
ensemblrs397507239
gopubmedrs397507239
geneviewrs397507239
scholarrs397507239
googlers397507239
pharmgkbrs397507239
gwascentralrs397507239
openSNPrs397507239
23andMers397507239
23andMe allrs397507239
SNP Nexus

SNPshotrs397507239
SNPdbers397507239
MSV3drs397507239
GWAS Ctlgrs397507239
Max Magnitude0

BRCA1 variant with conflicting designations in ClinVar; likely to be benign.

ClinVar
Risk rs397507239(C,T;C,T)
Alt rs397507239(C,T;C,T)
Reference rs397507239(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41219631T>A; NC_000017.10:g.41219631T>G
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000031207.3, RCV000048757.2, RCV000048756.5, RCV000077592.3, RCV000130370.2, RCV000225765.1,