5-77210936-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_003719.5(PDE8B):c.11C>T(p.Ala4Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000469 in 1,491,778 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003719.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PDE8B | ENST00000264917.10 | c.11C>T | p.Ala4Val | missense_variant | Exon 1 of 22 | 1 | NM_003719.5 | ENSP00000264917.6 | ||
ENSG00000284762 | ENST00000646262.1 | c.-34+92415C>T | intron_variant | Intron 3 of 23 | ENSP00000493971.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151112Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000373 AC: 5AN: 1340558Hom.: 0 Cov.: 32 AF XY: 0.00000301 AC XY: 2AN XY: 664644
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151220Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73890
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.11C>T (p.A4V) alteration is located in exon 1 (coding exon 1) of the PDE8B gene. This alteration results from a C to T substitution at nucleotide position 11, causing the alanine (A) at amino acid position 4 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