ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1784A>G (p.His595Arg) (rs80358460)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000112967 SCV000145932 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Color RCV000776231 SCV000911450 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586420 SCV000694561 uncertain significance not provided 2016-08-08 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1784A>G (p.His595Arg) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant is absent in 119028 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. One clinical diagnostic laboratories/reputable databases has classified this variant as a VUS. 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 RCV000508089 SCV000600487 uncertain significance not specified 2017-05-12 criteria provided, single submitter clinical testing

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