1-26255446-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001319944.2(CEP85):c.484C>G(p.Gln162Glu) variant causes a missense change. The variant allele was found at a frequency of 0.0000136 in 1,613,986 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001319944.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CEP85 | ENST00000451429.8 | c.484C>G | p.Gln162Glu | missense_variant | Exon 4 of 14 | 2 | NM_001319944.2 | ENSP00000417002.3 | ||
CEP85 | ENST00000252992.8 | c.484C>G | p.Gln162Glu | missense_variant | Exon 4 of 14 | 1 | ENSP00000252992.4 | |||
CEP85 | ENST00000640292.2 | c.331C>G | p.Gln111Glu | missense_variant | Exon 3 of 13 | 5 | ENSP00000492362.2 | |||
CEP85 | ENST00000480446.1 | n.*96C>G | downstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152094Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000637 AC: 16AN: 251328Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135826
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461892Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 10AN XY: 727248
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152094Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74282
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.484C>G (p.Q162E) alteration is located in exon 4 (coding exon 3) of the CEP85 gene. This alteration results from a C to G substitution at nucleotide position 484, causing the glutamine (Q) at amino acid position 162 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at