Pregnancy loss, recurrent, susceptibility to, 1: genes and variants

Genes linked to Pregnancy loss, recurrent, susceptibility to, 1

• F2: Prothrombin

  After cleavage to thrombin, it converts fibrinogen to fibrin and activates multiple additional coagulation components to amplify clot formation. Deficiency can cause bleeding, whereas the common G20210A variant raises prothrombin levels and increases venous-thrombosis risk.

  1 disease-causing and 4 uncertain variants in F2 are linked to Pregnancy loss, recurrent, susceptibility to, 1.

• F5: Coagulation factor V

  After activation, it serves as an essential cofactor for factor Xa in the prothrombinase complex and greatly accelerates thrombin generation. Deficiency can cause bleeding, whereas factor V Leiden produces activated-protein-C resistance and substantially increases venous-thrombosis risk.

  0 disease-causing and 8 uncertain variants in F5 are linked to Pregnancy loss, recurrent, susceptibility to, 1.

Known disease-causing variants in Pregnancy loss, recurrent, susceptibility to, 1

Same protein, different disease

• Prothrombin deficiency is also caused by F2 variants; they fall mostly in different places as the Pregnancy loss, recurrent, susceptibility to, 1 variants (17 disease-causing).

Diseases related to Pregnancy loss, recurrent, susceptibility to, 1

• Thrombophilia due to thrombin defect, also linked to F2 and F5
• Ischemic stroke, also linked to F2 and F5
• Prothrombin deficiency, also linked to F2
• Factor V deficiency, also linked to F5
• Hereditary thrombophilia due to congenital protein C deficiency, also linked to F2
• Thrombophilia due to activated protein C resistance, also linked to F5

Frequently asked questions

Which genes are linked to Pregnancy loss, recurrent, susceptibility to, 1?

In CATVariant, Pregnancy loss, recurrent, susceptibility to, 1 is linked to 2 analyzed proteins: F2 (Prothrombin) and F5 (Coagulation factor V).

How many genetic variants are linked to Pregnancy loss, recurrent, susceptibility to, 1?

14 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 12 are of uncertain significance or have conflicting reports.

Which uncertain variants in Pregnancy loss, recurrent, susceptibility to, 1 look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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