19-32879228-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032816.5(CEP89):āc.2286G>Cā(p.Gln762His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,880 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_032816.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEP89 | NM_032816.5 | c.2286G>C | p.Gln762His | missense_variant | 19/19 | ENST00000305768.10 | |
CEP89 | XM_005259344.4 | c.2214G>C | p.Gln738His | missense_variant | 19/19 | ||
CEP89 | XM_047439562.1 | c.1545G>C | p.Gln515His | missense_variant | 13/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEP89 | ENST00000305768.10 | c.2286G>C | p.Gln762His | missense_variant | 19/19 | 1 | NM_032816.5 | P3 | |
CEP89 | ENST00000586984.6 | c.*895G>C | 3_prime_UTR_variant, NMD_transcript_variant | 18/18 | 1 | ||||
CEP89 | ENST00000591698.5 | c.*1620G>C | 3_prime_UTR_variant, NMD_transcript_variant | 18/18 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461880Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 727238
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 06, 2023 | The c.2286G>C (p.Q762H) alteration is located in exon 19 (coding exon 19) of the CEP89 gene. This alteration results from a G to C substitution at nucleotide position 2286, causing the glutamine (Q) at amino acid position 762 to be replaced by a histidine (H). 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