rs1554892197
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_006204.4(PDE6C):āc.2288T>Cā(p.Met763Thr) 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. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M763I) has been classified as Uncertain significance.
Frequency
Consequence
NM_006204.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PDE6C | NM_006204.4 | c.2288T>C | p.Met763Thr | missense_variant | 20/22 | ENST00000371447.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PDE6C | ENST00000371447.4 | c.2288T>C | p.Met763Thr | missense_variant | 20/22 | 1 | NM_006204.4 | P1 | |
PDE6C | ENST00000475427.2 | n.83T>C | non_coding_transcript_exon_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1296306Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 654002
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 | Dec 01, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at