ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.*197del

dbSNP: rs748777325
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000262990 SCV000360795 likely benign Craniosynostosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000315856 SCV000360796 likely benign Jackson-Weiss syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000372710 SCV000360797 likely benign Isolated coronal synostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275939 SCV000360798 likely benign Saethre-Chotzen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000334006 SCV000360799 likely benign Levy-Hollister syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386154 SCV000360800 likely benign Crouzon syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294254 SCV000360801 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346874 SCV000360802 likely benign Beare-Stevenson cutis gyrata syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385163 SCV000360803 likely benign Acrocephalosyndactyly type I 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV003148705 SCV003837438 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 274 amino acids are replaced with 39 different amino acids; however, the majority of reported variants in this gene result in a gain-of-function; Has not been previously published as pathogenic or benign to our knowledge; Reported using an alternate transcript of the gene
CeGaT Center for Human Genetics Tuebingen RCV003148705 SCV004134762 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing FGFR2: BS1
Clinical Genomics Laboratory, Washington University in St. Louis RCV004558616 SCV005047087 uncertain significance FGFR2-related disorder 2024-04-02 criteria provided, single submitter clinical testing The FGFR2 c.2045del p.Lys682Argfs* variant was found at a near heterozygous allelic fraction consistent with germline origin. This variant, to our knowledge, has not been reported in the medical literature. This variant has been reported in the ClinVar database as an uncertain significance germline variant by one submitter (ClinVar ID: 298992). This variant causes a frameshift by deleting 1 nucleotide, leading to a premature termination codon; however, because this occurs in the last exon, this is not predicted to lead to nonsense mediated decay. Due to limited information and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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