ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1654G>A (p.Gly552Ser)

gnomAD frequency: 0.00001  dbSNP: rs758598971
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222076 SCV000276537 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-29 criteria provided, single submitter clinical testing The p.G552S variant (also known as c.1654G>A), located in coding exon 9 of the BRCA1 gene, results from a G to A substitution at nucleotide position 1654. The glycine at codon 552 is replaced by serine, 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.
Invitae RCV000637646 SCV000759115 uncertain significance Hereditary breast ovarian cancer syndrome 2022-02-18 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: 232405). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is present in population databases (rs758598971, gnomAD 0.02%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 552 of the BRCA1 protein (p.Gly552Ser).
Color Diagnostics, LLC DBA Color Health RCV000222076 SCV000909370 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-03 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000222076 SCV003851145 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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