Variant (rsID / SNP)
rs199879914
rs199879914 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,913,760. Clinical significance in the table: Likely benign.
Reference-table entries
BRCA2Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:32913760
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.5268A>G (p.Val1756=)
- Allele change
- Synonymous_V1756V
Associated conditions / phenotypes
Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group D1|Familial cancer of breast|Breast-ovarian cancer, familial, susceptibility to, 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
