ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.287_289del (p.Tyr96del) (rs555068280)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199639 SCV000250269 uncertain significance not specified 2016-12-13 criteria provided, single submitter clinical testing The c.287_289delACT variant in the FBN2 gene has been reported in one white patient with pulmonary nontuberculous mycobacteria (Szymanski et al., 2015). However, although members of this study cohort were evaluated for associated connective tissue features, no patient-specific clinical data or family member data were included for this variant. The c.287_289delACT variant is observed in 11/63,640 (0.02%) alleles from individuals of European ancestry and in 11/11,036 (0.1%) alleles from individuals of Latino ancestry in the Exome Aggregation Consortium (ExAC) dataset, and in 3/1,006 (0.3%) alleles from individuals of European ancestry in the 1000 Genomes Project (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant results in an in-frame deletion of a tyrosine residue at codon 96 in the FBN2 gene. An in-frame duplication in the FBN2 gene has been reported in association with congenital contractural arachnodactyly, however, no in-frame deletions in the FBN2 gene have been reported in HGMD (Stenson al., 2014). Furthermore, no missense variants in nearby residues have been reported in HGMD in association with the disease (Stenson et al., 2014), indicating perhaps this region of the protein may be tolerant of change.
Ambry Genetics RCV000246013 SCV000318875 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2013-06-25 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Invitae RCV000469776 SCV000563030 likely benign Congenital contractural arachnodactyly 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617987 SCV000738961 uncertain significance Cardiovascular phenotype 2018-01-03 criteria provided, single submitter clinical testing The c.287_289delACT variant (also known as p.Y96del) is located in coding exon 2 of the FBN2 gene. This variant results from an in-frame deletion of 3 nucleotides at positions 287 to 289. This results in the deletion of a tyrosine residue at codon 96. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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