2-231732996-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002601.4(PDE6D):c.409G>C(p.Asp137His) 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. 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. D137N) has been classified as Likely benign.
Frequency
Consequence
NM_002601.4 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 |
---|---|---|---|---|---|---|---|
PDE6D | NM_002601.4 | c.409G>C | p.Asp137His | missense_variant | 5/5 | ENST00000287600.9 | |
PDE6D | XM_047444726.1 | c.451G>C | p.Asp151His | missense_variant | 5/5 | ||
PDE6D | NM_001291018.2 | c.*21G>C | 3_prime_UTR_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PDE6D | ENST00000287600.9 | c.409G>C | p.Asp137His | missense_variant | 5/5 | 1 | NM_002601.4 | P1 | |
PDE6D | ENST00000409772.5 | c.*21G>C | 3_prime_UTR_variant | 4/4 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 28
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at