Variant (rsID / SNP)

rs202228407

rs202228407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRIP1. Location: chromosome 17, position 59,761,308. 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: 17:59761308
Cytoband: 17q23.2
HGVS: NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)
Allele change: Synonymous_P1033P

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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