ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4894A>C (p.Ser1632Arg) (rs80358712)

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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 RCV000164849 SCV000215532 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508372 SCV000600614 uncertain significance not specified 2016-12-15 criteria provided, single submitter clinical testing
Color RCV000164849 SCV000688903 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586217 SCV000694810 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4894A>C (p.Ser1632Arg) variant involves the alteration of a non-conserved nucleotide, resulting in a missense substitution. 3/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is absent from 0/119524 control chromosomes (ExAC). Multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor has it been evaluated for functional impact by in vivo/vitro studies. 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113354 SCV000146500 uncertain significance Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing

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