ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3607del (p.Glu1203fs)

dbSNP: rs2144070111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001978557 SCV002280262 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2022-10-25 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1490362). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This sequence change creates a premature translational stop signal (p.Glu1203Lysfs*11) in the BRIP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acid(s) of the BRIP1 protein.
Ambry Genetics RCV002458945 SCV002615073 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-20 criteria provided, single submitter clinical testing The c.3607delG variant, located in coding exon 19 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 3607, causing a translational frameshift with a predicted alternate stop codon (p.E1203Kfs*11). This alteration occurs at the 3' terminus of the BRIP1 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 46 amino acids of the protein. The exact functional effect of this alteration is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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