ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7362T>G (p.Ile2454Met)

dbSNP: rs1555286087
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588633 SCV000695052 uncertain significance not provided 2017-06-23 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7362T>G (p.Ile2454Met) variant involves the alteration of a non-conserved nucleotide and 3/4 in silico tools predict a benign outcome. However, these predictions have yet to be functionally assessed. This variant is absent in 121176 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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