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rs80359544

From SNPedia

Merged intors80359543
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AGTT) 6 BRCA2 variant considered pathogenic for breast cancer
(AGTT;AGTT) 0 common in clinvar
(GTTA;GTTA) 0 common in clinvar


Make rs80359544(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340206
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359544
dbSNP (old)rs80359544
ClinGenrs80359544
ebirs80359544
HLIrs80359544
Exacrs80359544
Gnomadrs80359544
Varsomers80359544
Maprs80359544
PheGenIrs80359544
Biobankrs80359544
1000 genomesrs80359544
hgdprs80359544
ensemblrs80359544
gopubmedrs80359544
geneviewrs80359544
scholarrs80359544
googlers80359544
pharmgkbrs80359544
gwascentralrs80359544
openSNPrs80359544
23andMers80359544
23andMe allrs80359544
SNP Nexus

SNPshotrs80359544
SNPdbers80359544
MSV3drs80359544
GWAS Ctlgrs80359544
StatusMerged into rs80359543
Max Magnitude6
rs80359544, also known as 6079del4, c.5851_5854delAGTT and p.Ser1951_Leu1952?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk
Alt
Reference Rs80359544(GTTA;GTTA)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32914343_32914346delAGTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031582.10, RCV000044773.3, RCV000131116.3, RCV000254645.1,