1-66372511-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_002600.4(PDE4B):c.2044C>G(p.Leu682Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000613 in 1,614,110 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002600.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000263 AC: 40AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000638 AC: 16AN: 250604Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135402
GnomAD4 exome AF: 0.0000376 AC: 55AN: 1461804Hom.: 0 Cov.: 32 AF XY: 0.0000344 AC XY: 25AN XY: 727200
GnomAD4 genome AF: 0.000289 AC: 44AN: 152306Hom.: 0 Cov.: 32 AF XY: 0.000269 AC XY: 20AN XY: 74476
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2044C>G (p.L682V) alteration is located in exon 17 (coding exon 16) of the PDE4B gene. This alteration results from a C to G substitution at nucleotide position 2044, causing the leucine (L) at amino acid position 682 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at