Submissions for variant NM_000506.5(F2):c.*96C>T

gnomAD frequency: 0.00093  dbSNP: rs72550707

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneReviews	RCV000133510	SCV000188585	not provided	Thrombophilia due to thrombin defect		no assertion provided	literature only
PreventionGenetics, part of Exact Sciences	RCV004734694	SCV005361124	uncertain significance	F2-related disorder	2024-05-13	no assertion criteria provided	clinical testing	The F2 c.*96C>T variant is located in the 3' untranslated region. This variant (aka C20209T) is rare and has been reported at a maximum allele frequency of only 0.30% in Africans and has not been reported in the homozygous state. Conflicting data exist for this variant with one report showing enhanced mRNA processing resulting in heightened FII protein levels and another showing decreased expression (Danckwardt et al. 2005. PubMed ID: 16689762; van der Putten et al. 2006. PubMed ID: 16796711). The c.*96C>T variant has been associated with thrombosis, but is also found in asymptomatic controls. These data suggest that the c.*96C>T may be associated with disease, but have reduced penetrance (Warshawsky et al. 2009. PubMed ID: 19522744). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.