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Variant (rsID / SNP)

rs587780830

BRIP1

rs587780830 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,761,132. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BRIP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:59761132
Cytoband
17q23.2
HGVS
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)
Allele change
Missense_P1092L

Associated conditions / phenotypes

Familial cancer of breast|Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Fanconi anemia complementation group J

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.