ClinVar Miner

Submissions for variant NM_004448.4(ERBB2):c.3725C>T (p.Thr1242Met)

gnomAD frequency: 0.00002  dbSNP: rs778352367
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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 RCV001935856 SCV002189466 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1416719). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1242 of the ERBB2 protein (p.Thr1242Met). This variant is present in population databases (rs778352367, gnomAD 0.03%). This missense change has been observed in individual(s) with breast cancer (PMID: 29072371). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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