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Variant (rsID / SNP)

rs116952709

BRIP1

rs116952709 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,926,567. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BRIP1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
17:59926567
Cytoband
17q23.2
HGVS
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
Allele change
Missense_A144T

Associated conditions / phenotypes

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

Public references

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