21-32602236-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The NM_001350337.2(CFAP298):āc.798C>Gā(p.Gly266Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000446 in 1,591,272 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001350337.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CFAP298 | ENST00000290155.8 | c.762+36C>G | intron_variant | Intron 6 of 6 | 1 | NM_021254.4 | ENSP00000290155.3 | |||
CFAP298-TCP10L | ENST00000673807.1 | c.666+925C>G | intron_variant | Intron 5 of 7 | ENSP00000501088.1 |
Frequencies
GnomAD3 genomes AF: 0.00215 AC: 327AN: 152180Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.000670 AC: 168AN: 250666Hom.: 2 AF XY: 0.000494 AC XY: 67AN XY: 135508
GnomAD4 exome AF: 0.000261 AC: 376AN: 1438974Hom.: 2 Cov.: 28 AF XY: 0.000245 AC XY: 176AN XY: 717112
GnomAD4 genome AF: 0.00219 AC: 334AN: 152298Hom.: 4 Cov.: 32 AF XY: 0.00226 AC XY: 168AN XY: 74474
ClinVar
Submissions by phenotype
CFAP298-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at