ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.683A>T (p.Asn228Ile) (rs398122566)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586098 SCV000694999 uncertain significance not provided 2016-07-31 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.683A>T (p.Asn228Ile) variant causes a missense change involving a non-conserved nucleotide with 3/4 in silico programs (SNPs&GO not captured here) predict a "benign" outcome. In addition, the variant of interest is the second nucleotide of the 5' position of exon 9, therefore suggesting possible alteration to splicing, which 3/4 splicing prediction tools predict no significant alteration to splicing. However, these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs or ESP), nor has it been to our knowledge, reported in affected individuals via publications and/or reputable databases/clinical laboratories. Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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