ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3682A>G (p.Asn1228Asp) (rs28897722)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163003 SCV000213491 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031433 SCV000146277 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000163003 SCV000683572 likely benign Hereditary cancer-predisposing syndrome 2015-03-10 criteria provided, single submitter clinical testing
Counsyl RCV000031433 SCV000220848 likely benign Breast-ovarian cancer, familial 2 2014-10-31 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031433 SCV000744442 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000044242 SCV000296854 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-11-20 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031433 SCV000244440 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 = 0.00000548
GeneDx RCV000160221 SCV000210595 likely benign not specified 2017-04-27 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 RCV000031433 SCV000743288 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587829 SCV000694711 likely benign not provided 2017-01-18 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.3682A>G (p.Asn1228Asp) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a damaging outcome for this variant. This variant was found in 6/120520 control chromosomes at a frequency of 0.0000498, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant of interest has been reported in multiple affected individuals via publications, although with limited information (ie lack of co-occurrence and co-segregation data). In addition, one reputable databases cite the variant to co-occur with multiple pathogenic BRCA2 variants, c.9904G>A (p.Glu3002Lys - classified likely pathogenic) and c.6468_6469delTC (pGln2157fsX8 - classified pathogenic). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as likely benign until additional information becomes available.
Invitae RCV000044242 SCV000072255 benign Hereditary breast and ovarian cancer syndrome 2017-12-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000587829 SCV000805698 likely benign not provided 2018-01-24 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031433 SCV000054038 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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