ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3304A>T (p.Asn1102Tyr) (rs28897719)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163002 SCV000213490 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031414 SCV000146211 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000163002 SCV000683544 likely benign Hereditary cancer-predisposing syndrome 2017-04-07 criteria provided, single submitter clinical testing
Counsyl RCV000031414 SCV000488937 benign Breast-ovarian cancer, familial 2 2016-07-26 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031414 SCV000244436 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 = 0.000083
GeneDx RCV000212227 SCV000210588 likely benign not specified 2017-11-02 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.
Integrated Genetics/Laboratory Corporation of America RCV000590063 SCV000694689 likely benign not provided 2016-11-28 criteria provided, single submitter clinical testing Variant summary: The c.3304A>T (p.Asn1102Tyr) in BRCA2 gene is a missense change that involves a non-conserved nucleotide and 4/5 in silico tools predict deleterious outcome. The variant of interest is located outside of any known functional domain or repeat, however the functional impact of this missense change is yet to be studied. The variant is present in the large control population dataset of ExAC at a frequency 0.000025 (3/117858 chrs tested), which does not exceed the estimated maximal expected allele frequency of a pathogenic variant (0.00075). The variant was reported in at least 2 individuals with known pathogenic variant, c.1929delG (p.Arg645GlufsX15) in BRCA2. In addition, multiple reputable databases/clinical diagnostic laboratories cite the variant as Benign/Likely Benign. Taken together, the variant was classified as Likely Benign until more data becomes available
Invitae RCV000044175 SCV000072188 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212227 SCV000600546 likely benign not specified 2017-06-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590063 SCV000887786 likely benign not provided 2018-07-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031414 SCV000054019 benign Breast-ovarian cancer, familial 2 2011-03-10 no assertion criteria provided clinical testing

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