ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.2494-3C>T

dbSNP: rs104886007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002514597 SCV002936855 uncertain significance not provided 2022-10-14 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 132944). This variant has not been reported in the literature in individuals affected with ERBB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 20 of the ERBB2 gene. It does not directly change the encoded amino acid sequence of the ERBB2 protein. It affects a nucleotide within the consensus splice site.
Laboratory of Translational Genomics, National Cancer Institute RCV000119345 SCV000154242 not provided Familial cancer of breast no assertion provided not provided

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