ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser)

gnomAD frequency: 0.00002  dbSNP: rs730881623
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212300 SCV000210819 uncertain significance not provided 2024-08-20 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Observed in individuals with breast cancer as well as healthy controls (PMID: 33471991); This variant is associated with the following publications: (PMID: 33471991)
Ambry Genetics RCV000160320 SCV000217078 likely benign Hereditary cancer-predisposing syndrome 2024-10-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000167936 SCV000218584 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2025-02-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 132 of the BRIP1 protein (p.Thr132Ser). This variant is present in population databases (rs730881623, gnomAD 0.009%). 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: 182331). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BRIP1 protein function with a negative predictive value of 95%. 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.
Counsyl RCV000662866 SCV000785755 uncertain significance Fanconi anemia complementation group J; Ovarian neoplasm 2017-11-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000160320 SCV000911172 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-26 criteria provided, single submitter clinical testing This missense variant replaces threonine with serine at codon 132 of the BRIP1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with breast cancer, but also in control individuals (PMID: 33471991). This variant has been identified in 7/282388 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Sema4, Sema4 RCV000160320 SCV002533708 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-27 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002298487 SCV002598970 uncertain significance not specified 2022-09-29 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003315952 SCV004019348 uncertain significance Familial cancer of breast 2023-02-28 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.
Baylor Genetics RCV003315952 SCV004214715 uncertain significance Familial cancer of breast 2024-03-11 criteria provided, single submitter clinical testing

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