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

• 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