rs4986852
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | predisposition to breast cancer? |
| (A;G) | possible predisposition to breast cancer | |
| (C;C) | 0 | |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 43092412 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4986852 |
| dbSNP (classic) | rs4986852 |
| ClinGen | rs4986852 |
| ebi | rs4986852 |
| HLI | rs4986852 |
| Exac | rs4986852 |
| Gnomad | rs4986852 |
| Varsome | rs4986852 |
| LitVar | rs4986852 |
| Map | rs4986852 |
| PheGenI | rs4986852 |
| Biobank | rs4986852 |
| 1000 genomes | rs4986852 |
| hgdp | rs4986852 |
| ensembl | rs4986852 |
| geneview | rs4986852 |
| scholar | rs4986852 |
| rs4986852 | |
| pharmgkb | rs4986852 |
| gwascentral | rs4986852 |
| openSNP | rs4986852 |
| 23andMe | rs4986852 |
| SNPshot | rs4986852 |
| SNPdbe | rs4986852 |
| MSV3d | rs4986852 |
| GWAS Ctlg | rs4986852 |
| GMAF | 0.01194 |
| Max Magnitude | 2 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs4986852 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 1040. The more common rs4986852(G) allele encodes Ser, while the rare rs4986852(A) allele encodes Asn; this variation is also known as Ser1040Asn or S1040N.
A well known study published in 1994 looked at 10 family pedigrees with breast cancer and ovarian cancer susceptibility, including 63 breast cancer patients, and discovered what they believed were seven putative disease-causing mutations. rs4986852 was one of these variants. [PMID 7894493]
However, ClinVar classifies this variant (c.3119G>A) as benign.
- See also Omim 113705.0011
| ClinVar | |
|---|---|
| Risk | Rs4986852(A;A) |
| Alt | Rs4986852(A;A) |
| Reference | Rs4986852(G;G) |
| Significance | Other |
| 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.41244429C>T |
| CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019239.11, RCV000034739.3, RCV000048074.8, RCV000120293.5, RCV000128951.4, RCV000456692.1, |
[PMID 16111488
] Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.
[PMID 19644020] Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.
[PMID 30820179] Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females.
