Variant (rsID / SNP)
rs80358981
rs80358981 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,930,687. Clinical significance in the table: Pathogenic.
Reference-table entries
BRCA2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:32930687
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)
- Allele change
- Nonsense_R2520X
Associated conditions / phenotypes
Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 2|Breast neoplasm|Hereditary cancer-predisposing syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Breast and/or ovarian cancer|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.