ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.3430G>C (p.Asp1144His)

gnomAD frequency: 0.00011  dbSNP: rs138611862
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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 RCV001344903 SCV001538989 uncertain significance not provided 2024-12-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 1144 of the ERBB2 protein (p.Asp1144His). This variant is present in population databases (rs138611862, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with HER2 positive breast cancer (PMID: 29072371). ClinVar contains an entry for this variant (Variation ID: 1041144). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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