ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser) (rs80358768)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000074541 SCV000602804 benign not specified 2016-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162505 SCV000212894 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113432 SCV000146616 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415168 SCV000492705 likely benign Breast carcinoma 2015-09-21 criteria provided, single submitter clinical testing
Color RCV000162505 SCV000683706 likely benign Hereditary cancer-predisposing syndrome 2015-07-29 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000074541 SCV000591969 benign not specified 2014-10-30 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113432 SCV000244458 benign Breast-ovarian cancer, familial 2 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 = 0.00000012
GeneDx RCV000074541 SCV000108626 likely benign not specified 2018-02-19 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.
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000162505 SCV000747807 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587294 SCV000694871 benign not provided 2016-06-22 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5455C>T (p.Pro1819Ser) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. A multifactorial probability based model showed this variant is neutral (Lindor_2012). This variant was found in 23/121138 control chromosomes at a frequency of 0.0001899, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant has been found in numerous individuals who also carry a pathogenic BRCA variant, suggesting this variant is unlikely to associate with the disease. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000044663 SCV000072676 benign Hereditary breast and ovarian cancer syndrome 2018-01-09 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113432 SCV000189309 benign Breast-ovarian cancer, familial 2 2008-09-30 no assertion criteria provided clinical testing

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