Variant (rsID / SNP)
rs56328701
rs56328701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,907,401. Clinical significance in the table: Benign.
Reference-table entries
BRCA2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:32907401
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
- Allele change
- Missense_D596H
Associated conditions / phenotypes
Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 2|Breast neoplasm|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group D1|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.