ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.700AAG[1] (p.Lys235del)

dbSNP: rs876659379
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Total submissions: 5
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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 2024-11-21 criteria provided, single submitter clinical testing The c.703_705delAAG variant (also known as p.K235del) is located in coding exon 6 of the BRIP1 gene. This variant results from an in-frame AAG deletion at nucleotide positions 703 to 705. This results in the in-frame deletion of a lysine at codon 235. The deleted amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000471922 SCV000547319 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2024-11-13 criteria provided, single submitter clinical testing This variant, c.703_705del, results in the deletion of 1 amino acid(s) of the BRIP1 protein (p.Lys235del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 231808). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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 2023-11-05 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function
Color Diagnostics, LLC DBA Color Health RCV000221449 SCV000903232 likely benign Hereditary cancer-predisposing syndrome 2016-07-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567577 SCV005059266 uncertain significance Familial cancer of breast 2024-02-05 criteria provided, single submitter clinical testing

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