ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4450T>G (p.Ser1484Ala)

dbSNP: rs80357404
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000775104 SCV000909212 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-02 criteria provided, single submitter clinical testing
Invitae RCV000793386 SCV000932735 uncertain significance Hereditary breast ovarian cancer syndrome 2023-03-18 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: 630099). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1484 of the BRCA1 protein (p.Ser1484Ala).
Ambry Genetics RCV000775104 SCV001184253 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-04 criteria provided, single submitter clinical testing The p.S1484A variant (also known as c.4450T>G), located in coding exon 12 of the BRCA1 gene, results from a T to G substitution at nucleotide position 4450. The serine at codon 1484 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well 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.

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