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rs80358062

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common/normal
(G;T) 6 Likely/Pathogenic for breast cancer
Make rs80358062(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position43047635
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358062
dbSNP (old)rs80358062
ClinGenrs80358062
ebirs80358062
HLIrs80358062
Exacrs80358062
Gnomadrs80358062
Varsomers80358062
LitVarrs80358062
Maprs80358062
PheGenIrs80358062
Biobankrs80358062
1000 genomesrs80358062
hgdprs80358062
ensemblrs80358062
gopubmedrs80358062
geneviewrs80358062
scholarrs80358062
googlers80358062
pharmgkbrs80358062
gwascentralrs80358062
openSNPrs80358062
23andMers80358062
23andMe allrs80358062
SNPshotrs80358062
SNPdbers80358062
MSV3drs80358062
GWAS Ctlgrs80358062
Max Magnitude6

rs80358062, also known as c.5467+8G>T or c.5467+8G>A, represents an intronic variant in the BRCA1 gene.

The c.5467+8G>T variant is reported as pathogenic for breast cancer by one submitter in ClinVar; the c.5467+8G>A variant is reported as likely to be benign by one submitter and as of uncertain significance by two other submitters.

23andMe name for the c.5467+8G>T variant: i5009490

ClinVar
Risk rs80358062(A;A) rs80358062(T;T)
Alt rs80358062(A;A) rs80358062(T;T)
Reference Rs80358062(G;G)
Significance Other
Disease Familial cancer of breast Breast-ovarian cancer not specified
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not specified
Reversed 1
HGVS NC_000017.10:g.41199652C>A; NC_000017.10:g.41199652C>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049005.2, RCV000077168.5, RCV000160009.1,