Variant (rsID / SNP)
rs80358600
rs80358600 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,912,007. Clinical significance in the table: Benign.
Reference-table entries
BRCA2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:32912007
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
- Allele change
- Nonsense_S1172X
Associated conditions / phenotypes
Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group D1|Breast and/or ovarian cancer|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.