rs1786263
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032142.4(CEP192):c.7346G>A(p.Arg2449Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,459,796 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R2449L) has been classified as Likely benign.
Frequency
Consequence
NM_032142.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CEP192 | NM_032142.4 | c.7346G>A | p.Arg2449Gln | missense_variant | 43/45 | ENST00000506447.5 | NP_115518.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CEP192 | ENST00000506447.5 | c.7346G>A | p.Arg2449Gln | missense_variant | 43/45 | 5 | NM_032142.4 | ENSP00000427550.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248966Hom.: 0 AF XY: 0.00000744 AC XY: 1AN XY: 134488
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1459796Hom.: 0 Cov.: 38 AF XY: 0.00000275 AC XY: 2AN XY: 726026
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at