ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.2589C>T (p.Asp863=)

gnomAD frequency: 0.00001  dbSNP: rs764308274
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002801056 SCV003029417 uncertain significance not provided 2022-07-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ERBB2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is present in population databases (rs764308274, gnomAD 0.01%). This sequence change affects codon 863 of the ERBB2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ERBB2 protein.

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