ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3731_*5del (p.Met1244fs) (rs1555572407)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558722 SCV000633690 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2017-05-15 criteria provided, single submitter clinical testing This sequence change deletes 25 nucleotides from exon 20 of the BRIP1 mRNA (c.3731_*5del), causing a frameshift at codon 1244. This creates a premature translational stop signal in the last exon of the BRIP1 mRNA (p.Met1244Thrfs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acids of the BRIP1 protein. 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. Experimental studies have not been reported for this truncating variant and it is currently unknown if the last 6 amino acids of the BRIP1 protein are critical for its function. In summary, this is a novel truncation with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000560935 SCV000661526 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence

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