8-86628952-A-T
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_Strong
The NM_019098.5(CNGB3):c.1447T>A(p.Tyr483Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic 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. Y483D) has been classified as Likely pathogenic.
Frequency
Consequence
NM_019098.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CNGB3 | NM_019098.5 | c.1447T>A | p.Tyr483Asn | missense_variant | 12/18 | ENST00000320005.6 | |
CNGB3 | XM_011517138.3 | c.1033T>A | p.Tyr345Asn | missense_variant | 10/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CNGB3 | ENST00000320005.6 | c.1447T>A | p.Tyr483Asn | missense_variant | 12/18 | 1 | NM_019098.5 | P1 | |
CNGB3 | ENST00000681546.1 | n.1267T>A | non_coding_transcript_exon_variant | 7/13 | |||||
CNGB3 | ENST00000681746.1 | c.1447T>A | p.Tyr483Asn | missense_variant, NMD_transcript_variant | 12/19 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251112Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135684
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at