rs137852443
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM2PP3_StrongPP5
The NM_000132.4(F8):c.5398C>T(p.Arg1800Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000916 in 1,092,018 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Consequence
NM_000132.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
F8 | NM_000132.4 | c.5398C>T | p.Arg1800Cys | missense_variant | 16/26 | ENST00000360256.9 | NP_000123.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
F8 | ENST00000360256.9 | c.5398C>T | p.Arg1800Cys | missense_variant | 16/26 | 1 | NM_000132.4 | ENSP00000353393 | P1 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD3 exomes AF: 0.00000550 AC: 1AN: 181798Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 66840
GnomAD4 exome AF: 9.16e-7 AC: 1AN: 1092018Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 357708
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
Hereditary factor VIII deficiency disease Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jan 01, 1992 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at