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rs397507239

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397507239(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067614
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507239
dbSNP (old)rs397507239
ClinGenrs397507239
ebirs397507239
HLIrs397507239
Exacrs397507239
Varsomers397507239
Maprs397507239
PheGenIrs397507239
Biobankrs397507239
1000 genomesrs397507239
hgdprs397507239
ensemblrs397507239
gopubmedrs397507239
geneviewrs397507239
scholarrs397507239
googlers397507239
pharmgkbrs397507239
gwascentralrs397507239
openSNPrs397507239
23andMers397507239
23andMe allrs397507239
SNP Nexus

SNPshotrs397507239
SNPdbers397507239
MSV3drs397507239
GWAS Ctlgrs397507239
Max Magnitude6

c.5068A>T (p.Lys1690Ter) is a BRCA1 variant with somewhat conflicting designations in the past in ClinVar; by consensus, it is now considered pathogenic for breast cancer in ClinVar and also in the ClinVitae database.

Note that the other variant/minor alleles possible for this SNP, A>C & A>G, are considered either benign or of uncertain significance, respectively.

ClinVar
Risk rs397507239(C;C) rs397507239(T;T)
Alt rs397507239(C;C) rs397507239(T;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 Neoplasm of breast
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 Neoplasm of breast
Reversed 1
HGVS NC_000017.10:g.41219631T>A; NC_000017.10:g.41219631T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000031207.5, RCV000048757.2, RCV000048756.5, RCV000077592.3, RCV000130370.3, RCV000225765.1, RCV000240688.1,