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Variant (rsID / SNP)

rs137852986

BRIP1

rs137852986 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,793,412. 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
17:59793412
Cytoband
17q23.2
HGVS
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
Allele change
Nonsense_R798X

Associated conditions / phenotypes

Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J|Fanconi anemia|Breast neoplasm|Neoplasm of ovary|Familial cancer of breast|Tracheoesophageal fistula|Fanconi anemia complementation group J|Breast cancer, early-onset|BRIP1-Related Disorders|Familial cancer of breast|Malignant tumor of breast|BRIP1-Related Disorders|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.