NM_021254.4:c.860G>A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_021254.4(CFAP298):c.860G>A(p.Trp287*) variant causes a stop gained change. The variant allele was found at a frequency of 0.000000689 in 1,452,204 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021254.4 stop_gained
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CFAP298 | ENST00000290155.8 | c.860G>A | p.Trp287* | stop_gained | Exon 7 of 7 | 1 | NM_021254.4 | ENSP00000290155.3 | ||
CFAP298-TCP10L | ENST00000673807.1 | c.666+1285G>A | intron_variant | Intron 5 of 7 | ENSP00000501088.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251372Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135862
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1452204Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 723108
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
This variant has not been reported in the literature in individuals with CFAP298-related conditions. This sequence change results in a premature translational stop signal in the CFAP298 gene (p.Trp287*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acids of the CFAP298 protein. This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at