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

rs80359584

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CTTAA) 6 BRCA2 variant considered pathogenic for breast cancer
(-;TAACT) 6 BRCA2 variant considered pathogenic for breast cancer
(TAACT;TAACT) 0 common in clinvar


Make rs80359584(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340757
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359584
dbSNP (classic)rs80359584
ClinGenrs80359584
ebirs80359584
HLIrs80359584
Exacrs80359584
Gnomadrs80359584
Varsomers80359584
LitVarrs80359584
Maprs80359584
PheGenIrs80359584
Biobankrs80359584
1000 genomesrs80359584
hgdprs80359584
ensemblrs80359584
geneviewrs80359584
scholarrs80359584
googlers80359584
pharmgkbrs80359584
gwascentralrs80359584
openSNPrs80359584
23andMers80359584
SNPshotrs80359584
SNPdbers80359584
MSV3drs80359584
GWAS Ctlgrs80359584
Merged fromRs80359585
Max Magnitude6

rs80359584, also known as c.6405_6409delTAACT, 6630del5, c.6402_6406delTAACT and p.Asn2134_Leu2136?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359584(-;-) rs80359584(CTTAA;CTTAA)
Alt rs80359584(-;-) rs80359584(CTTAA;CTTAA)
Reference Rs80359584(TAACT;TAACT)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Neoplasm of breast Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Neoplasm of breast Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32914897_32914901delCTTAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031625.10, RCV000044934.8, RCV000160301.3, RCV000162930.3, RCV000240801.1, RCV000456954.1,