ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) (rs80358755)

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Total submissions: 22
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034445 SCV000602747 benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162664 SCV000213106 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034445 SCV000043212 probably not pathogenic not provided 2012-07-13 no assertion criteria provided research Converted during submission to Likely benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000031539 SCV000146599 not provided Breast-ovarian cancer, familial 2 no assertion provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768599 SCV000219350 benign Breast and/or ovarian cancer 2017-08-22 criteria provided, single submitter clinical testing
Color RCV000162664 SCV000683694 likely benign Hereditary cancer-predisposing syndrome 2015-03-10 criteria provided, single submitter clinical testing
Counsyl RCV000031539 SCV000154060 likely benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031539 SCV000744467 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168575 SCV000591959 benign not specified 2014-01-16 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000168575 SCV000588100 benign not specified 2017-04-20 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000031539 SCV000733266 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031539 SCV000244456 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 = 0.000000153
Fulgent Genetics,Fulgent Genetics RCV000031539 SCV000575746 likely benign Breast-ovarian cancer, familial 2 2015-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000168575 SCV000167372 benign not specified 2014-03-06 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000031539 SCV000743306 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000044634 SCV000383714 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000044634 SCV000494421 benign Hereditary breast and ovarian cancer syndrome 2015-04-09 criteria provided, single submitter clinical testing Variant Summary: The variant of interst causes a missense change in a non-conserved position with 3/5 in silico programs predicting a "benign" outcome. The variant of interest has an observed allele frequency of 41/121940 (1/2976) including 1 homozygous occurrence. Functional analysis through the use of allelic imbalance implicated the variant does not affect splicing (Caux-Moncoutier_2009). The variant of interest has been reported in multiple affected individuals, however, it has shown lack of co-segregation within one family with an affected individual not carrying the variant of interest (Carvallone_2010). In addition, the variant of interest was reported to co-occur with another potentially pathogenic BRCA2 variant, c.759_759delinsACA and a potentially pathogenic BRCA1 variant, c.212+3A>G. Furthermore, multiple reputable databases/laboratories (ARUP, UMD, SCRP, GeneDx and Ambry Genetics) and publications (Lindor_2012, Easton_2007, and Cunningham_2014) classify the variant as "likely benign/benign/polymorphism." Therefore, taken all together, the variant of interest is classified as benign.
Invitae RCV000044634 SCV000072647 benign Hereditary breast and ovarian cancer syndrome 2017-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000168575 SCV000538487 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Clinvar: 7 labs classify as LB/Ben; ExAC: 0.1% (6/11554) Latino chromosomes
Mendelics RCV000044634 SCV000838814 likely benign Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000034445 SCV000805720 likely benign not provided 2017-01-10 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031539 SCV000054144 benign Breast-ovarian cancer, familial 2 2006-03-16 no assertion criteria provided clinical testing

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