Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201869624

BRIP1

rs201869624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,793,364. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

BRIP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:59793364
Cytoband
17q23.2
HGVS
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
Allele change
Missense_R814C

Associated conditions / phenotypes

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

Public references

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