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rs80359667

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CTCTGCGTGTTCTC) 6 BRCA2 variant considered pathogenic for breast cancer
(CCTCTGCGTGTTCT;CCTCTGCGTGTTCT) 0 common in clinvar
(CTCTGCGTGTTCTC;CTCTGCGTGTTCTC) 0 common/normal


Make rs80359667(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32356588
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359667
dbSNP (classic)rs80359667
ClinGenrs80359667
ebirs80359667
HLIrs80359667
Exacrs80359667
Gnomadrs80359667
Varsomers80359667
LitVarrs80359667
Maprs80359667
PheGenIrs80359667
Biobankrs80359667
1000 genomesrs80359667
hgdprs80359667
ensemblrs80359667
geneviewrs80359667
scholarrs80359667
googlers80359667
pharmgkbrs80359667
gwascentralrs80359667
openSNPrs80359667
23andMers80359667
SNPshotrs80359667
SNPdbers80359667
MSV3drs80359667
GWAS Ctlgrs80359667
Max Magnitude6

rs80359667, also known as 7824del14, c.7596_7609del and p.Pro2532_His2537?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359667(-;-)
Alt rs80359667(-;-)
Reference Rs80359667(CCTCTGCGTGTTCT;CCTCTGCGTGTTCT)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32930725_32930738delCTCTGCGTGTTCTC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113780.2,