ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4552C>G (p.Gln1518Glu)

dbSNP: rs80356881
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204694 SCV000259495 uncertain significance Hereditary breast ovarian cancer syndrome 2023-12-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 1518 of the BRCA1 protein (p.Gln1518Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with a personal and/or family history of breast cancer (PMID: 26845104). ClinVar contains an entry for this variant (Variation ID: 219563). 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV000210208 SCV000266157 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2015-11-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777929 SCV000913983 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000777929 SCV001184450 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-01 criteria provided, single submitter clinical testing The p.Q1518E variant (also known as c.4552C>G), located in coding exon 13 of the BRCA1 gene, results from a C to G substitution at nucleotide position 4552. The glutamine at codon 1518 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is 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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