rs62019510
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_002605.3(PDE8A):c.1202A>C(p.Asn401Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,460,010 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002605.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_002605.3. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| PDE8A | NM_002605.3 | MANE Select | c.1202A>C | p.Asn401Thr | missense | Exon 14 of 22 | NP_002596.1 | ||
| PDE8A | NM_173454.1 | c.1064A>C | p.Asn355Thr | missense | Exon 13 of 21 | NP_775656.1 | |||
| PDE8A | NM_001243137.2 | c.986A>C | p.Asn329Thr | missense | Exon 14 of 22 | NP_001230066.1 |
Ensembl Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| PDE8A | ENST00000394553.6 | TSL:1 MANE Select | c.1202A>C | p.Asn401Thr | missense | Exon 14 of 22 | ENSP00000378056.1 | ||
| PDE8A | ENST00000310298.8 | TSL:1 | c.1202A>C | p.Asn401Thr | missense | Exon 15 of 23 | ENSP00000311453.4 | ||
| PDE8A | ENST00000339708.9 | TSL:1 | c.1064A>C | p.Asn355Thr | missense | Exon 13 of 21 | ENSP00000340679.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460010Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 726386 show subpopulations
Age Distribution
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at