Variant (rsID / SNP)
rs4987050
rs4987050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,760,948. 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
- 17:59760948
- Cytoband
- 17q23.2
- HGVS
- NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
- Allele change
- Synonymous_D1153D
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Fanconi anemia complementation group J|Familial cancer of breast|Familial cancer of breast|Fanconi anemia complementation group J|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.