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Variant (rsID / SNP)

rs775171520

BRIP1

rs775171520 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,871,088. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BRIP1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:59871088
Cytoband
17q23.2
HGVS
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)
Allele change
Nonsense_W448X

Associated conditions / phenotypes

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

Public references

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