ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.839C>G (p.Thr280Ser)

gnomAD frequency: 0.00004  dbSNP: rs548111162
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223401 SCV000273987 likely benign Hereditary cancer-predisposing syndrome 2024-02-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000456771 SCV000551368 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 280 of the RAD51D protein (p.Thr280Ser). This variant is present in population databases (rs548111162, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 230436). 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 RAD51D protein function. 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.
Mendelics RCV000456771 SCV001140410 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV002510822 SCV002820804 uncertain significance not provided 2023-01-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21111057, 14704354, 19327148)
Revvity Omics, Revvity RCV002510822 SCV004236535 uncertain significance not provided 2022-09-21 criteria provided, single submitter clinical testing

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