ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6013G>T (p.Asp2005Tyr) (rs587781760)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129979 SCV000184803 uncertain significance Hereditary cancer-predisposing syndrome 2014-01-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Invitae RCV000472369 SCV000549853 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-08-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 2005 of the BRCA2 protein (p.Asp2005Tyr). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is present in population databases (rs587781760, ExAC 0.02%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 141457). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768158 SCV000898550 uncertain significance Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3 2018-10-15 criteria provided, single submitter clinical testing BRCA2 NM_000059.3 exon 11 p.Asp2005Tyr (c.6013G>T): This variant has not been reported in the literature but is present in 0.01% (6/33580) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/13-32914505-G-T). This variant is present in ClinVar (Variation ID:141457). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985554 SCV001133846 uncertain significance not provided 2019-06-06 criteria provided, single submitter clinical testing

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