ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4521G>T (p.Arg1507Ser)

dbSNP: rs1435385135
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223684 SCV001395842 uncertain significance Hereditary breast ovarian cancer syndrome 2019-11-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BRCA1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 1507 of the BRCA1 protein (p.Arg1507Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine.
Ambry Genetics RCV002327530 SCV002633424 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-20 criteria provided, single submitter clinical testing The p.R1507S variant (also known as c.4521G>T), located in coding exon 13 of the BRCA1 gene, results from a G to T substitution at nucleotide position 4521. The arginine at codon 1507 is replaced by serine, an amino acid with dissimilar 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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