rs193920799
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The ENST00000308191.11(PDE7B):c.742C>A(p.Arg248=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,054 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000308191.11 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PDE7B | NM_018945.4 | c.742C>A | p.Arg248= | synonymous_variant | 9/13 | ENST00000308191.11 | NP_061818.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PDE7B | ENST00000308191.11 | c.742C>A | p.Arg248= | synonymous_variant | 9/13 | 1 | NM_018945.4 | ENSP00000310661 | P1 | |
PDE7B-AS1 | ENST00000655618.1 | n.82-11479G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250706Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135466
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459054Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 726064
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at