rs4149754
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000133.4(F9):c.88+681G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0526 in 111,988 control chromosomes in the GnomAD database, including 147 homozygotes. There are 1,738 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000133.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
F9 | NM_000133.4 | c.88+681G>A | intron_variant | ENST00000218099.7 | |||
F9 | NM_001313913.2 | c.88+681G>A | intron_variant | ||||
F9 | XM_005262397.5 | c.88+681G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
F9 | ENST00000218099.7 | c.88+681G>A | intron_variant | 1 | NM_000133.4 | P1 | |||
F9 | ENST00000394090.2 | c.88+681G>A | intron_variant | 1 | |||||
F9 | ENST00000479617.2 | n.95+681G>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0526 AC: 5892AN: 111937Hom.: 148 Cov.: 23 AF XY: 0.0509 AC XY: 1736AN XY: 34123
GnomAD4 genome ? AF: 0.0526 AC: 5886AN: 111988Hom.: 147 Cov.: 23 AF XY: 0.0508 AC XY: 1738AN XY: 34184
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at