Variant (rsID / SNP)
rs80358694
rs80358694 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,913,091. 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
- 13:32913091
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
- Allele change
- Missense_K1533N
Associated conditions / phenotypes
Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Breast neoplasm|Fanconi anemia complementation group D1|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.