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rs80359626

From SNPedia

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


Make rs80359626(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32341184
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359626
dbSNP (classic)rs80359626
ClinGenrs80359626
ebirs80359626
HLIrs80359626
Exacrs80359626
Gnomadrs80359626
Varsomers80359626
LitVarrs80359626
Maprs80359626
PheGenIrs80359626
Biobankrs80359626
1000 genomesrs80359626
hgdprs80359626
ensemblrs80359626
geneviewrs80359626
scholarrs80359626
googlers80359626
pharmgkbrs80359626
gwascentralrs80359626
openSNPrs80359626
23andMers80359626
SNPshotrs80359626
SNPdbers80359626
MSV3drs80359626
GWAS Ctlgrs80359626
Merged fromRs80359627
Max Magnitude6

rs80359626, also known as c.6833_6837delCTTAT, 7057del5, c.6829_6833delCTTAT and p.Leu2277_Ile2278?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359626(-;-) rs80359626(TCTTA;TCTTA)
Alt rs80359626(-;-) rs80359626(TCTTA;TCTTA)
Reference Rs80359626(CTTAT;CTTAT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32915325_32915329delTCTTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045068.2, RCV000113656.5, RCV000162934.2, RCV000478267.1,