Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000808882 | SCV000949011 | uncertain significance | Familial cancer of breast | 2023-08-07 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 653164). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This missense change has been observed in individual(s) with breast cancer (PMID: 30303537). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 140 of the CHEK2 protein (p.Ser140Gly). |