ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1247T>G (p.Ile416Ser) (rs80358418)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129196 SCV000183936 benign Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000212209 SCV000210557 likely benign not specified 2015-04-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000129196 SCV000906884 benign Hereditary cancer-predisposing syndrome 2017-03-21 criteria provided, single submitter clinical testing
Mendelics RCV000077253 SCV001138993 likely benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001112107 SCV001269728 uncertain significance Fanconi anemia, complementation group D1 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000077253 SCV001272998 uncertain significance Breast-ovarian cancer, familial 2 2017-04-27 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.
Sharing Clinical Reports Project (SCRP) RCV000077253 SCV000109050 benign Breast-ovarian cancer, familial 2 2012-07-31 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077253 SCV000145840 uncertain significance Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing

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