ClinVar Miner

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

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Total submissions: 10
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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 RCV000590810 SCV000072553 benign not provided 2019-02-15 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000590810 SCV000231467 uncertain significance not provided 2014-08-22 criteria provided, single submitter clinical testing
Color RCV000162997 SCV000683666 likely benign Hereditary cancer-predisposing syndrome 2016-03-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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
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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