Variant (rsID / SNP)
rs4988345
rs4988345 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,924,572. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
BRIP1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:59924572
- Cytoband
- 17q23.2
- HGVS
- NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
- Allele change
- Missense_R173C
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Neoplasm of ovary|Familial cancer of breast|Familial cancer of breast|Fanconi anemia complementation group J|Malignant tumor of breast|Breast and/or ovarian cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.