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rs397509136

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 BRCA1 variant of unclear significance
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer


Make rs397509136(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091459
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509136
ebirs397509136
HLIrs397509136
Exacrs397509136
Varsomers397509136
Maprs397509136
PheGenIrs397509136
hapmaprs397509136
1000 genomesrs397509136
hgdprs397509136
ensemblrs397509136
gopubmedrs397509136
geneviewrs397509136
scholarrs397509136
googlers397509136
pharmgkbrs397509136
gwascentralrs397509136
openSNPrs397509136
23andMers397509136
23andMe allrs397509136
SNP Nexus

SNPshotrs397509136
SNPdbers397509136
MSV3drs397509136
GWAS Ctlgrs397509136
Max Magnitude6

rs397509136, also known as both c.4072G>T (p.Glu1358Ter) and c.4072G>A (p.Glu1358Lys), represents a rare variant in the BRCA1 gene.

The G>T variant is considered pathogenic for breast cancer in ClinVar; the G>A variant is of uncertain significance.


ClinVar
Risk rs397509136(A,T;A,T)
Alt rs397509136(A,T;A,T)
Reference rs397509136(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41243476C>A; NC_000017.10:g.41243476C>T
CLNSRC ClinVar
CLNACC RCV000083045.2, RCV000048434.2,