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rs80359543

From SNPedia

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


Make rs80359543(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340203
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359543
dbSNP (old)rs80359543
ClinGenrs80359543
ebirs80359543
HLIrs80359543
Exacrs80359543
Varsomers80359543
Maprs80359543
PheGenIrs80359543
Biobankrs80359543
1000 genomesrs80359543
hgdprs80359543
ensemblrs80359543
gopubmedrs80359543
geneviewrs80359543
scholarrs80359543
googlers80359543
pharmgkbrs80359543
gwascentralrs80359543
openSNPrs80359543
23andMers80359543
23andMe allrs80359543
SNP Nexus

SNPshotrs80359543
SNPdbers80359543
MSV3drs80359543
GWAS Ctlgrs80359543
Merged fromRs80359544
Max Magnitude6
rs80359543, also known as 6076del4, c.5848_5851delGTTA and p.Val1950_Ser1951?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359543(-;-) rs80359543(AGTT;AGTT)
Alt rs80359543(-;-) rs80359543(AGTT;AGTT)
Reference Rs80359543(GTTA;GTTA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32914343_32914346delAGTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031582.11, RCV000044773.4, RCV000131116.3, RCV000254645.2,