ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr) (rs80357386)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587381 SCV000698993 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.3080G>C (p.Ser1027Thr) variant involves the alteration of a non-conserved nucleotide and 2/4 in silico tools (SNPsandGO not captured due to low reliability index)predict a benign outcome, although these predictions have yet to be functionally assessed. This variant is absent in 121356 control chromosomes (ExAC). The variant of interest has not, to our knowledge, been reported in affected individuals via publications. A database cites the variant with a classification of "UV." Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS), until additional information becomes available.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587381 SCV000887658 uncertain significance not provided 2018-04-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764121 SCV000895094 uncertain significance Familial cancer of breast; Breast-ovarian cancer, familial 1; Pancreatic cancer 4; FANCONI ANEMIA, COMPLEMENTATION GROUP S 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018505 SCV001179752 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-03 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001053353 SCV001217611 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-08-11 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 1027 of the BRCA1 protein (p.Ser1027Thr). 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). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 496362). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Color RCV001018505 SCV001351501 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-30 criteria provided, single submitter clinical testing

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