ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1460C>A (p.Ala487Glu) (rs56390402)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082494 SCV000071825 benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131573 SCV000186579 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000043812 SCV000210560 likely benign not specified 2017-08-25 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.
Counsyl RCV000031322 SCV000220591 likely benign Breast-ovarian cancer, familial 2 2014-08-12 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000043812 SCV000591745 likely benign not specified 2015-03-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001281850 SCV000602832 likely benign none provided 2019-11-16 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000131573 SCV000679708 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679155 SCV000805653 likely benign not provided 2017-08-17 criteria provided, single submitter clinical testing
Color Health, Inc RCV000131573 SCV000910624 benign Hereditary cancer-predisposing syndrome 2015-12-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001109419 SCV001266758 uncertain significance Fanconi anemia, complementation group D1 2018-08-30 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 RCV000031322 SCV001273003 uncertain significance Breast-ovarian cancer, familial 2 2018-08-30 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.
Sharing Clinical Reports Project (SCRP) RCV000031322 SCV000053927 benign Breast-ovarian cancer, familial 2 2011-03-03 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031322 SCV000145875 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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