ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5039C>A (p.Ser1680Tyr) (rs1555284041)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574179 SCV000661385 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence
Color RCV000574179 SCV000913130 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589794 SCV000694815 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5039C>A (p.Ser1680Tyr) variant located in a BRCA2 repeat domain (via InterPro) involves the alteration of a non-conserved nucleotide and 4/4 in silico tools (MutationTaster not captured here due to low p-value) predict a damaging outcome. However, these predictions have yet to be functionally assessed. This variant is absent in 118740 control chromosomes (ExAC). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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