rs1554618417
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PVS1PM2PP5
The ENST00000320005.6(CNGB3):c.265C>T(p.Gln89Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,632 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
ENST00000320005.6 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CNGB3 | NM_019098.5 | c.265C>T | p.Gln89Ter | stop_gained | 3/18 | ENST00000320005.6 | NP_061971.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CNGB3 | ENST00000320005.6 | c.265C>T | p.Gln89Ter | stop_gained | 3/18 | 1 | NM_019098.5 | ENSP00000316605 | P1 | |
ENST00000519041.1 | n.448+18610G>A | intron_variant, non_coding_transcript_variant | 3 | |||||||
CNGB3 | ENST00000519777.1 | n.247C>T | non_coding_transcript_exon_variant | 3/4 | 2 | |||||
CNGB3 | ENST00000681746.1 | c.265C>T | p.Gln89Ter | stop_gained, NMD_transcript_variant | 3/19 | ENSP00000505959 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461632Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727128
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Achromatopsia 3 Pathogenic:1
Pathogenic, no assertion criteria provided | research | Molecular Genetics Laboratory, Institute for Ophthalmic Research | Mar 27, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at