|(A;A)||2||predisposition to breast cancer?|
|(A;G)||possible predisposition to breast cancer|
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
|Disease||Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Familial cancer of breast|
|CLNDBN||Breast-ovarian cancer, familial 1 not provided Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Familial cancer of breast|
|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.
|qualified_impact||Insufficiently evaluated pathogenic|