Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357862

From SNPedia

Merged intors80357580
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CTAA) 6 BRCA1 variant considered pathogenic for breast cancer
(CTAA;CTAA) 0 Normal


Make rs80357862(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067649
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357862
dbSNP (classic)rs80357862
ClinGenrs80357862
ebirs80357862
HLIrs80357862
Exacrs80357862
Gnomadrs80357862
Varsomers80357862
LitVarrs80357862
Maprs80357862
PheGenIrs80357862
Biobankrs80357862
1000 genomesrs80357862
hgdprs80357862
ensemblrs80357862
geneviewrs80357862
scholarrs80357862
googlers80357862
pharmgkbrs80357862
gwascentralrs80357862
openSNPrs80357862
23andMers80357862
SNPshotrs80357862
SNPdbers80357862
MSV3drs80357862
GWAS Ctlgrs80357862
StatusMerged into rs80357580
Max Magnitude6

rs80357862, also known as 5149del4, c.5030_5033delCTAA and p.Thr1677_Asn1678?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference Rs80357862(CTAA;CTAA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast cancer
Reversed 1
HGVS NC_000017.10:g.41219666_41219669delTTAG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031204.9, RCV000048741.4, RCV000162882.1, RCV000236835.2, RCV000240792.1,