ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3878C>T (p.Ala1293Val)

dbSNP: rs80357213
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164922 SCV000215610 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-07 criteria provided, single submitter clinical testing The p.A1293V variant (also known as c.3878C>T and 3997C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 3878. The alanine at codon 1293 is replaced by valine, an amino acid with similar properties. This alteration was identified in an individual from a hereditary breast and/or ovarian cancer cohort (Zuntini R et al. Front Genet 2018 Sep;9:378). This amino acid position is poorly conserved in available vertebrate species. 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.
Invitae RCV001339366 SCV001533106 uncertain significance Hereditary breast ovarian cancer syndrome 2023-08-23 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 55036). This missense change has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 30254663). This variant is present in population databases (rs80357213, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1293 of the BRCA1 protein (p.Ala1293Val).
University of Washington Department of Laboratory Medicine, University of Washington RCV000164922 SCV003849660 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).
Sharing Clinical Reports Project (SCRP) RCV000077556 SCV000109358 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2009-08-19 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077556 SCV000144908 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355516 SCV001550428 uncertain significance not provided no assertion criteria provided clinical testing
Department of Medical and Surgical Sciences, University of Bologna RCV000077556 SCV004228354 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2023-09-01 no assertion criteria provided clinical testing PM2(Supporting)+PP4(Moderate)+BP1(Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)

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