ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) (rs10070365)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117034 SCV000151156 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000117034 SCV000168524 benign not specified 2012-11-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000117034 SCV000269108 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Ser2758Ser in exon 64 of FBN2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 17.3% (764/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs10070365).
PreventionGenetics,PreventionGenetics RCV000117034 SCV000308657 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000243294 SCV000317704 benign Cardiovascular phenotype 2014-11-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Clinical Services Laboratory,Illumina RCV000403969 SCV000452540 benign Congenital contractural arachnodactyly 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283386 SCV000603675 benign none provided 2020-08-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587506 SCV000697905 benign not provided 2017-03-22 criteria provided, single submitter clinical testing Variant summary: The FBN2 c.8274C>T (p.Ser2758Ser) variant involves the alteration of a non-conserved nucleotide causing a synonymous change that 5/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts no significant effect on ESE sites caused by the variant. However, these predictions have yet to be confirmed by functional studies. This variant was found in the large control database ExAC at a frequency of 0.1042542 (12655/121386 control chromosomes [778 homozygotes]), which is approximately 83403 times the estimated maximal expected allele frequency of a pathogenic FBN2 variant (0.0000013), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. To our knowledge, the variant of interest has not been reported in affected individuals via publications, nor has it been evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000403969 SCV000745423 benign Congenital contractural arachnodactyly 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000403969 SCV001730869 benign Congenital contractural arachnodactyly 2020-12-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000403969 SCV000745922 benign Congenital contractural arachnodactyly 2014-11-19 no assertion criteria provided clinical testing

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