Variant Info - hg38

Splice-5: 4-186287824-G-A

Gene: F11

pLI: 1.91e-22

Haploinsufficiency: None

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

pHGVS: -

Exon: -/15

Intron: 14/14

OMIM ClinVar gnomAD

PVS1 Flowchart

Preliminary Decision Path: SS6
  • GT-AG splice sites
    • Exon skipping or use of a
      cryptic splice site disrupts reading frame
      and is NOT predicted to undergo NMD
      • Role of region in
        protein function is unknown #1
        • LoF variants in this exon are
          not frequent in the general population #2
          and exon is present in
          biologically-relevant transcripts
          • Variant removes <10% of protein
            • Moderate
#1 19 ClinVar pathogenic missense variant(s) and 2 benign missense variant(s) are found in Peptidase S1 domain (amino acids 388-623 on protein P03951).
#2 No LOF variant is found or the LOF variant dosen't exist in gnomAD.

Disease Mechanism

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