ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.502C>A (p.Pro168Thr) (rs80358726)

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Total submissions: 11
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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) RCV000113704 SCV000244453 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 = 0.0000316
Invitae RCV001080689 SCV000072553 benign Hereditary breast and ovarian cancer syndrome 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000044540 SCV000210545 likely benign not specified 2017-10-31 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 RCV000162997 SCV000213485 benign Hereditary cancer-predisposing syndrome 2014-11-10 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000590810 SCV000231467 uncertain significance not provided 2014-08-22 criteria provided, single submitter clinical testing
Color Health, Inc RCV000162997 SCV000683666 likely benign Hereditary cancer-predisposing syndrome 2016-03-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590810 SCV000694821 benign not provided 2016-04-22 criteria provided, single submitter clinical testing Variant summary: The c.502C>A is a missense variant involves a conserved nucleotide and 5/5 in silico tools predict deleterious outcome. The variant is present in the control population dataset of ExAC at a frequency of 0.00084%, which does not exceed the maximal expected allele frequency for a non-common pathogenic BRCA2 variant (0.075%). The fact, that this variant co-occurred with different deleterious mutations in both BRCA1 and BRCA2 genes, suggest a non-disease causing nature of this variant. Diagnostics centers and several published reports classified this variant as Likely Benign and Benign. Taken all together, the variant was classified as Benign.
PreventionGenetics,PreventionGenetics RCV000590810 SCV000805714 uncertain significance not provided 2018-01-08 criteria provided, single submitter clinical testing
Mendelics RCV000113704 SCV001138966 likely benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV001646340 SCV001854649 benign Breast-ovarian cancer, familial 2; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2020-01-20 criteria provided, single submitter curation
Breast Cancer Information Core (BIC) (BRCA2) RCV000113704 SCV000147017 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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