ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg)

gnomAD frequency: 0.00001  dbSNP: rs147119272
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457812 SCV000547280 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2022-08-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1024 of the BRIP1 protein (p.Gly1024Arg). This variant is present in population databases (rs147119272, gnomAD 0.006%). 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: 407819). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (Invitae). 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 RCV000570958 SCV000664827 likely benign Hereditary cancer-predisposing syndrome 2019-04-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl RCV000662973 SCV000785953 uncertain significance Fanconi anemia complementation group J; Ovarian neoplasm 2018-01-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000570958 SCV000911291 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-03 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003316562 SCV004019302 uncertain significance Familial cancer of breast 2023-02-27 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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