rs1554604849
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_019098.5(CNGB3):c.1783C>T(p.Leu595Phe) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,624 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_019098.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CNGB3 | NM_019098.5 | c.1783C>T | p.Leu595Phe | missense_variant, splice_region_variant | 16/18 | ENST00000320005.6 | NP_061971.3 | |
CNGB3 | XM_011517138.3 | c.1369C>T | p.Leu457Phe | missense_variant, splice_region_variant | 14/16 | XP_011515440.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CNGB3 | ENST00000320005.6 | c.1783C>T | p.Leu595Phe | missense_variant, splice_region_variant | 16/18 | 1 | NM_019098.5 | ENSP00000316605 | P1 | |
CNGB3 | ENST00000681546.1 | n.1603C>T | splice_region_variant, non_coding_transcript_exon_variant | 11/13 | ||||||
CNGB3 | ENST00000681746.1 | c.*194C>T | splice_region_variant, 3_prime_UTR_variant, NMD_transcript_variant | 17/19 | ENSP00000505959 | |||||
CNGB3 | ENST00000517327.5 | upstream_gene_variant | 3 | ENSP00000428329 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461624Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 727114
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Achromatopsia Uncertain:1
Uncertain significance, criteria provided, single submitter | research | Molecular Genetics Laboratory, Institute for Ophthalmic Research | Mar 20, 2018 | - - |
Achromatopsia 3 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Counsyl | Nov 09, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at