8-86667131-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_019098.5(CNGB3):c.646C>A(p.Arg216Arg) variant causes a splice region, synonymous change. The variant allele was found at a frequency of 0.000000684 in 1,461,130 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_019098.5 splice_region, synonymous
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CNGB3 | NM_019098.5 | c.646C>A | p.Arg216Arg | splice_region_variant, synonymous_variant | Exon 6 of 18 | ENST00000320005.6 | NP_061971.3 | |
CNGB3 | XM_011517138.3 | c.232C>A | p.Arg78Arg | splice_region_variant, synonymous_variant | Exon 4 of 16 | XP_011515440.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CNGB3 | ENST00000320005.6 | c.646C>A | p.Arg216Arg | splice_region_variant, synonymous_variant | Exon 6 of 18 | 1 | NM_019098.5 | ENSP00000316605.5 | ||
CNGB3 | ENST00000681746.1 | n.646C>A | splice_region_variant, non_coding_transcript_exon_variant | Exon 6 of 19 | ENSP00000505959.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461130Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 726840
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.