ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.703_705delAAG (rs876659379)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221449 SCV000275767 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000471922 SCV000547319 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-06-06 criteria provided, single submitter clinical testing This variant, c.703_705delAAG, results in the deletion of 1 amino acid of the BRIP1 protein (p.Lys235del), but otherwise preserves the integrity of the reading frame. 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: 231808). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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.
GeneDx RCV000479679 SCV000571922 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing This in-frame deletion of three nucleotides in BRIP1 is denoted c.703_705delAAG at the cDNA level and p.Lys235del (K235del) at the protein level. The normal sequence, with the bases that are deleted in braces, is TAAG[AAG]GATC. This deletion occurs in a region that is conserved across species and is located in the Helicase ATP-binding domain (Cantor 2011, UniProt). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRIP1 Lys235del to be a variant of uncertain significance.
Color RCV000221449 SCV000903232 likely benign Hereditary cancer-predisposing syndrome 2016-07-07 criteria provided, single submitter clinical testing

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