ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3119G>C (p.Ser1040Thr) (rs4986852)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540088 SCV000635885 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-05-22 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 1040 of the BRCA1 protein (p.Ser1040Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Mendelics RCV000540088 SCV000839259 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000989891 SCV001140559 uncertain significance Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing

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