ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2899G>A (p.Glu967Lys)

dbSNP: rs1305928655
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000636061 SCV000757493 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-04-06 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 530287). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 967 of the BRIP1 protein (p.Glu967Lys).
Color Diagnostics, LLC DBA Color Health RCV000771510 SCV000903996 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000771510 SCV002749691 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-29 criteria provided, single submitter clinical testing The p.E967K variant (also known as c.2899G>A), located in coding exon 18 of the BRIP1 gene, results from a G to A substitution at nucleotide position 2899. The glutamic acid at codon 967 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003459517 SCV004214615 uncertain significance Familial cancer of breast 2023-11-19 criteria provided, single submitter clinical testing

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