ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2231C>A (p.Ala744Asp)

dbSNP: rs786204220
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000168347 SCV000219036 uncertain significance Hereditary breast ovarian cancer syndrome 2014-12-18 criteria provided, single submitter clinical testing In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This sequence change has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces alanine with aspartic acid at codon 744 of the BRCA1 protein (p.Ala744Asp). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and aspartic acid.
Ambry Genetics RCV001014829 SCV001175589 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-14 criteria provided, single submitter clinical testing The p.A744D variant (also known as c.2231C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide position 2231. The alanine at codon 744 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by BayesDel in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV001014829 SCV003847831 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).

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