rs561237622
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_032930.3(CFAP300):āc.361C>Gā(p.Arg121Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,611,106 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_032930.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CFAP300 | NM_032930.3 | c.361C>G | p.Arg121Gly | missense_variant | 4/7 | ENST00000434758.7 | |
CFAP300 | NM_001363505.2 | c.361C>G | p.Arg121Gly | missense_variant | 4/6 | ||
CFAP300 | XM_005271713.5 | c.361C>G | p.Arg121Gly | missense_variant | 4/6 | ||
CFAP300 | NM_001195005.2 | c.268+7622C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CFAP300 | ENST00000434758.7 | c.361C>G | p.Arg121Gly | missense_variant | 4/7 | 2 | NM_032930.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 152070Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459036Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 725796
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 152070Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74274
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at