rs4961206
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM1PM2BP4_Moderate
The NM_019098.5(CNGB3):c.892A>T(p.Thr298Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 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. T298P) has been classified as Benign.
Frequency
Consequence
NM_019098.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CNGB3 | NM_019098.5 | c.892A>T | p.Thr298Ser | missense_variant | 7/18 | ENST00000320005.6 | |
CNGB3 | XM_011517138.3 | c.478A>T | p.Thr160Ser | missense_variant | 5/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CNGB3 | ENST00000320005.6 | c.892A>T | p.Thr298Ser | missense_variant | 7/18 | 1 | NM_019098.5 | P1 | |
CNGB3 | ENST00000681546.1 | n.712A>T | non_coding_transcript_exon_variant | 2/13 | |||||
CNGB3 | ENST00000681746.1 | c.892A>T | p.Thr298Ser | missense_variant, NMD_transcript_variant | 7/19 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1447848Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 721318
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at