ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.695A>T (p.Asp232Val)

dbSNP: rs398122708
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233161 SCV000289839 uncertain significance Hereditary breast ovarian cancer syndrome 2024-11-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 232 of the BRCA1 protein (p.Asp232Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 91664). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BRCA1 protein function. 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 RCV000569574 SCV000665823 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-03 criteria provided, single submitter clinical testing The p.D232V variant (also known as c.695A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 695. The aspartic acid at codon 232 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Counsyl RCV000077181 SCV000785570 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2017-10-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000569574 SCV001342719 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-17 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with valine at codon 232 of the BRCA1 protein. Computational prediction tool is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800381 SCV002046521 uncertain significance not provided 2020-12-23 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000569574 SCV003848007 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493435 SCV004242845 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077181 SCV000108978 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2011-07-18 no assertion criteria provided clinical testing

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