ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg)

dbSNP: rs121913474
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003322768 SCV004028028 likely pathogenic not provided 2023-08-16 criteria provided, single submitter clinical testing Mosaic variant present in affected tissue of patients with skin lesions in the literature (Kuentz et al., 2017; Tanaka et al., 2018; Gracis-Darder et al., 2023), including papillomatous pedunculated sebaceous nevus, non-epidermolytic keratinocytic epidermal nevus, and rounded and velvety epidermal nevus.; Mosaic variant identified in additional tumor types, including ameloblastoma, thyroid cancer, adenoid cystic carcinoma, and uterine corpus endometrial carcinoma (Brown et al., 2014; Sweeney et al., 2014; Chang et al., 2016; Chalal et al., 2018; Lu et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29701304, 24993163, 24859340, 28757314, 36376059, 29610392, 27368441, 27095246, 26619011)
Database of Curated Mutations (DoCM) RCV000429923 SCV000506386 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440577 SCV000506387 likely pathogenic Gastric adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419879 SCV000506388 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Genome Sciences Centre, British Columbia Cancer Agency RCV000585739 SCV000693662 uncertain significance Adenoid cystic carcinoma 2018-02-01 no assertion criteria provided research

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