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rs80356860

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 3 BRCA1 variant of unclear significance
(G;G) 0 common in clinvar


Make rs80356860(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063909
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356860
ebirs80356860
HLIrs80356860
Exacrs80356860
Varsomers80356860
Maprs80356860
PheGenIrs80356860
hapmaprs80356860
1000 genomesrs80356860
hgdprs80356860
ensemblrs80356860
gopubmedrs80356860
geneviewrs80356860
scholarrs80356860
googlers80356860
pharmgkbrs80356860
gwascentralrs80356860
openSNPrs80356860
23andMers80356860
23andMe allrs80356860
SNP Nexus

SNPshotrs80356860
SNPdbers80356860
MSV3drs80356860
GWAS Ctlgrs80356860
GMAF0.0004591
Max Magnitude3

c.5117G>A (p.Gly1706Glu)

clinical significance unclear


ClinVar
Risk rs80356860(A,C;A,C)
Alt rs80356860(A,C;A,C)
Reference rs80356860(G;G)
Significance Pathogenic
Disease not specified Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN not specified Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41215926C>G; NC_000017.10:g.41215926C>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000048801.5, RCV000077598.8, RCV000162991.1, RCV000195322.2, RCV000031219.6, RCV000048800.2, RCV000219187.1, RCV000221607.1,