ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7013-5T>C (rs28763927)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117029 SCV000151151 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000117029 SCV000168514 benign not specified 2012-11-29 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 RCV000117029 SCV000269105 benign not specified 2013-04-04 criteria provided, single submitter clinical testing 7013-5T>C in intron 55 of FBN2: This variant is not expected to have clinical si gnificance because it has been identified in 8.3% (365/4404) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs28763927).
PreventionGenetics,PreventionGenetics RCV000117029 SCV000308643 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000252543 SCV000317308 benign Cardiovascular phenotype 2014-11-19 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 RCV000291281 SCV000452555 benign Congenital contractural arachnodactyly 2018-01-12 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 RCV001282907 SCV000603684 benign none provided 2020-08-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586699 SCV000697902 benign not provided 2017-03-22 criteria provided, single submitter clinical testing Variant summary: The FBN2 c.7013-5T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts the loss of an SRp40 binding motif. However, these predictions have yet to be confirmed by functional studies. The variant of interest has been observed in a large, broad control population, ExAC, in 9206/120128 control chromosomes (389 homozygotes) at a frequency of 0.0766349, which is approximately 61308 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 classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000291281 SCV001722944 benign Congenital contractural arachnodactyly 2020-12-08 criteria provided, single submitter clinical testing

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