Variant (rsID / SNP)
rs45491005
rs45491005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,914,260. Clinical significance in the table: Benign.
Reference-table entries
BRCA2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:32914260
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala)
- Allele change
- Missense_D1923A
Associated conditions / phenotypes
Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast and/or ovarian cancer|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.
