Variant (rsID / SNP)
rs79456940
rs79456940 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,914,817. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
BRCA2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:32914817
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)
- Allele change
- Missense_V2109I
Associated conditions / phenotypes
Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast neoplasm|Fanconi anemia complementation group D1|Cancer of the pancreas|Malignant tumor of breast|Familial cancer of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.