ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) (rs28897691)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112369 SCV000244364 benign Breast-ovarian cancer, familial 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000173
Invitae RCV000048612 SCV000076625 benign Hereditary breast and ovarian cancer syndrome 2020-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000123923 SCV000167307 benign not specified 2013-12-13 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.
Ambry Genetics RCV000162986 SCV000213474 benign Hereditary cancer-predisposing syndrome 2014-09-03 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Co-occurence with mutation in same gene (phase unknown);In silico models in agreement (benign)
Counsyl RCV000112369 SCV000220947 benign Breast-ovarian cancer, familial 1 2014-12-11 criteria provided, single submitter literature only
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283295 SCV000602726 benign none provided 2020-02-05 criteria provided, single submitter clinical testing
Color Health, Inc RCV000162986 SCV000683196 likely benign Hereditary cancer-predisposing syndrome 2015-07-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112369 SCV000743391 benign Breast-ovarian cancer, familial 1 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112369 SCV000744611 benign Breast-ovarian cancer, familial 1 2017-05-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000123923 SCV000806956 benign not specified 2017-03-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000112369 SCV001280757 likely benign Breast-ovarian cancer, familial 1 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Institute of Human Genetics, University of Leipzig Medical Center RCV000112369 SCV001429384 uncertain significance Breast-ovarian cancer, familial 1 2019-05-07 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112369 SCV000145135 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353447 SCV000591529 benign Malignant tumor of breast no assertion criteria provided clinical testing The p.Asp1646Asn variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located near a splice junction, is listed in dbSNP (rs28897691) and EVS as a low frequency variant, and is reported as benign in XXX# publications (${MatchVariant_1_ReferenceSummary}).
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735456 SCV000863593 benign Breast and/or ovarian cancer 2013-03-28 no assertion criteria provided clinical testing

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