rs146510084
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002601.4(PDE6D):c.409G>T(p.Asp137Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,459,928 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PDE6D | NM_002601.4 | c.409G>T | p.Asp137Tyr | missense_variant | Exon 5 of 5 | ENST00000287600.9 | NP_002592.1 | |
PDE6D | XM_047444726.1 | c.451G>T | p.Asp151Tyr | missense_variant | Exon 5 of 5 | XP_047300682.1 | ||
PDE6D | NM_001291018.2 | c.*21G>T | 3_prime_UTR_variant | Exon 4 of 4 | NP_001277947.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1459928Hom.: 0 Cov.: 28 AF XY: 0.00000138 AC XY: 1AN XY: 726478
GnomAD4 genome Cov.: 32
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.