Submissions for variant NM_005141.5(FGB):c.114+11del

dbSNP: rs779228767

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000364371	SCV000447762	uncertain significance	Congenital afibrinogenemia	2016-06-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001844136	SCV002103768	uncertain significance	not specified	2022-02-25	criteria provided, single submitter	clinical testing	Variant summary: FGB c.114+11delT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00011 in 158840 control chromosomes. This frequency does not allow conclusions about variant significance. To our knowledge, no occurrence of c.114+11delT in individuals affected with Afibrinogenemia, Congenital and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.