ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4231A>G (p.Met1411Val)

gnomAD frequency: 0.00001  dbSNP: rs587781768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129998 SCV000184822 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-25 criteria provided, single submitter clinical testing The p.M1411V variant (also known as c.4231A>G), located in coding exon 11 of the BRCA1 gene, results from an A to G substitution at nucleotide position 4231. The methionine at codon 1411 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000765360 SCV000896625 uncertain significance Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000806954 SCV000946978 uncertain significance Hereditary breast ovarian cancer syndrome 2023-10-25 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1411 of the BRCA1 protein (p.Met1411Val). 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: 141465). 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 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.

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