ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1629-4C>A

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002401206 SCV002708098 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-31 criteria provided, single submitter clinical testing The c.1629-4C>A intronic variant results from a C to A substitution 4 nucleotides upstream from coding exon 11 in the BRIP1 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. RNA studies have demonstrated that this alteration results in an incomplete splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003097031 SCV003477083 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-05-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492763 SCV004240386 uncertain significance Breast and/or ovarian cancer 2022-06-30 criteria provided, single submitter clinical testing

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