ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.847A>G (p.Ile283Val) (rs80359097)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045529 SCV000073542 likely benign Hereditary breast and ovarian cancer syndrome 2020-09-01 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000077440 SCV000195954 likely benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000164639 SCV000215303 likely benign Hereditary cancer-predisposing syndrome 2018-05-25 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000045529 SCV000257620 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-06-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000077440 SCV001272872 uncertain significance Breast-ovarian cancer, familial 2 2017-07-13 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001114949 SCV001272873 uncertain significance Fanconi anemia, complementation group D1 2017-07-13 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color Health, Inc RCV000164639 SCV001353631 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-16 criteria provided, single submitter clinical testing
GeneDx RCV001561218 SCV001783773 uncertain significance not provided 2019-06-03 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 10923033, 17899372, 30400234, 23635950)
Sharing Clinical Reports Project (SCRP) RCV000077440 SCV000109238 likely benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077440 SCV000145779 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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