Variant Info

Splice-5: 4-187208978-G-A

Gene: F11

pLI: 1.91e-22

Haploinsufficiency: na

cHGVS: NM_000128.4:c.1716+1G>A

pHGVS: -

Exon: -/15

Intron: 14/14

OMIM ClinVar gnomAD

PVS1 Flowchart

Preliminary Decision Path: SS3
  • GT-AG splice sites
    • Exon skipping or use of a cryptic
      splice site disrupts reading frame
      and is NOT predicted to undergo NMD
      • Truncated/altered region is
        critical to protein function #1
        • Strong
#1 19 ClinVar pathogenic missense variant(s) and 1 benign missense variant(s) are found in Peptidase S1 domain (amino acids 388-623 on protein P03951).

Disease Mechanism

Gene Disease Inheritance Clinical Validity Disease Mechanism Consideration Adjusted Strength
F11 congenital factor XI deficiency Semidominant Definitive No Decrease Strong