ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6874G>T (p.Glu2292Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002362201 SCV002662883 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-03 criteria provided, single submitter clinical testing The p.E2292* variant (also known as c.6874G>T), located in coding exon 11 of the BRCA2 gene, results from a G to T substitution at nucleotide position 6874. This changes the amino acid from a glutamic acid to a stop codon within coding exon 11. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function involving truncations in coding exon 11 (also known as Exon 12 in the literature) specifically has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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