ClinVar Miner

Submissions for variant NM_004448.3(ERBB2):c.2320del (p.Met774fs) (rs397516978)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038125 SCV000061791 likely pathogenic Non-small cell lung cancer 2011-11-10 criteria provided, single submitter clinical testing The Met774fs variant has not been previously reported nor previously identified by our laboratory. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 774 and leads to a prematu re stop codon 17 amino acids downstream. This alteration is then predicted to le ad to a truncated or absent protein. Somatic ERBB2 variants have been identified in up to 9.8% of cases of lung adenocarcinoma (Cancer Genome Project and Collab orative Group 2004).

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