rs137852470
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM2PM5PP3_StrongPP5
The ENST00000360256.9(F8):āc.6794A>Gā(p.Gln2265Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000000911 in 1,097,638 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q2265K) has been classified as Likely pathogenic.
Frequency
Consequence
ENST00000360256.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
F8 | NM_000132.4 | c.6794A>G | p.Gln2265Arg | missense_variant | 25/26 | ENST00000360256.9 | NP_000123.1 | |
F8 | NM_019863.3 | c.389A>G | p.Gln130Arg | missense_variant | 4/5 | NP_063916.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
F8 | ENST00000360256.9 | c.6794A>G | p.Gln2265Arg | missense_variant | 25/26 | 1 | NM_000132.4 | ENSP00000353393 | P1 | |
F8 | ENST00000330287.10 | c.389A>G | p.Gln130Arg | missense_variant | 4/5 | 1 | ENSP00000327895 | |||
F8 | ENST00000644698.1 | c.527A>G | p.Gln176Arg | missense_variant | 5/6 | ENSP00000495706 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome AF: 9.11e-7 AC: 1AN: 1097638Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 1AN XY: 362994
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
not provided Pathogenic:2
Pathogenic, no assertion criteria provided | clinical testing | Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ | - | - - |
Pathogenic, no assertion criteria provided | clinical testing | Genome Diagnostics Laboratory, University Medical Center Utrecht | - | - - |
Hereditary factor VIII deficiency disease Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jan 01, 1995 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at