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rs4986850

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2
(G;G) 0 common in complete genomics
Make rs4986850(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093454
GeneBRCA1
is asnp
is mentioned by
dbSNPrs4986850
ebirs4986850
HLIrs4986850
Exacrs4986850
Varsomers4986850
Maprs4986850
PheGenIrs4986850
hapmaprs4986850
1000 genomesrs4986850
hgdprs4986850
ensemblrs4986850
gopubmedrs4986850
geneviewrs4986850
scholarrs4986850
googlers4986850
pharmgkbrs4986850
gwascentralrs4986850
openSNPrs4986850
23andMers4986850
23andMe allrs4986850
SNP Nexus

SNPshotrs4986850
SNPdbers4986850
MSV3drs4986850
GWAS Ctlgrs4986850
GMAF0.03949
Max Magnitude2
? (A;A) (A;G) (G;G) 28

This SNP, a variant in the BRCA1 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.

For this particular SNP, the risk (minor) allele is (A).

Neighborrs1800709
Distance444


ClinVar
Risk rs4986850(A,T;A,T)
Alt rs4986850(A,T;A,T)
Reference rs4986850(G;G)
Significance Non-pathogenic
Disease Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41245471C>A; NC_000017.10:g.41245471C>T
CLNSRC Inc. Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation HGMD
CLNACC RCV000111759.1, RCV000034730.3, RCV000047702.4, RCV000111758.5, RCV000120289.5, RCV000129094.3, RCV000157727.1,



[PMID 17764108] Polymorphisms in DNA repair genes, ionizing radiation exposure and risk of breast cancer in U.S. Radiologic technologists.


[PMID 19644020OA-icon.png] Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.


GET Evidence
BRCA1-D693N
aa_change Asp693Asn
aa_change_short D693N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0531796
summary