ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5125G>T (p.Asp1709Tyr) (rs398122792)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213126 SCV000278072 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Counsyl RCV000077741 SCV000786427 uncertain significance Breast-ovarian cancer, familial 2 2018-04-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000206087 SCV000494384 uncertain significance Hereditary breast and ovarian cancer syndrome 2014-12-30 criteria provided, single submitter clinical testing
Invitae RCV000206087 SCV000259620 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 1709 of the BRCA2 protein (p.Asp1709Tyr). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 91833). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505967 SCV000600626 uncertain significance not specified 2016-09-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758905 SCV000887839 uncertain significance not provided 2018-04-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077741 SCV000109544 uncertain significance Breast-ovarian cancer, familial 2 2012-04-05 no assertion criteria provided clinical testing

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