ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.426-20T>G (rs1064795008)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484138 SCV000570392 uncertain significance not provided 2016-05-17 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.426-20T>G or IVS4-20T>G and consists of a T>G nucleotide substitution at the -20 position of intron 4 of the BRCA2 gene. Using alternate nomenclature, this variant would be defined as BRCA2 654-20T>G. In silico splicing models are inconsistent. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 c.426-20T>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The thymine (T) nucleotide that is altered is not conserved across species. Based on currently available evidence, it is unclear whether BRCA2 c.426-20T>G is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color RCV000775862 SCV000910337 likely benign Hereditary cancer-predisposing syndrome 2017-04-13 criteria provided, single submitter clinical testing

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