ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2158_2160del (p.Val720del) (rs878855146)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233153 SCV000291005 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2016-02-18 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 15 of the BRIP1 mRNA (c.2158_2160delGTG). This leads to the deletion of 1 amino acid residue(s) in the BRIP1 protein (p.Val720del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRIP1-related disease. In summary, this is a novel variant with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000573342 SCV000668955 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-29 criteria provided, single submitter clinical testing Insufficient evidence

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