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Variant (rsID / SNP)

rs786202637

BRIP1

rs786202637 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,878,640. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BRIP1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
17:59878640
Cytoband
17q23.2
HGVS
NM_032043.3(BRIP1):c.1114C>A (p.Leu372Ile)
Allele change
Missense_L372I

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Familial cancer of breast|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.