Variant (rsID / SNP)
rs80359164
rs80359164 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,954,034. Clinical significance in the table: Uncertain significance.
Reference-table entries
BRCA2Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:32954034
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.9101A>G (p.Gln3034Arg)
- Allele change
- Missense_Q3034R
Associated conditions / phenotypes
Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
