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 2019-06-25 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). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 461165). 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, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, 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 Insufficient or conflicting evidence

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