6-136224135-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The ENST00000655618.1(PDE7B-AS1):n.81+1403G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.018 in 152,158 control chromosomes in the GnomAD database, including 54 homozygotes. 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
ENST00000655618.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PDE7B-AS1 | ENST00000655618.1 | n.81+1403G>A | intron_variant, non_coding_transcript_variant | ||||||
PDE7B-AS1 | ENST00000417643.5 | n.58+1403G>A | intron_variant, non_coding_transcript_variant | 5 | |||||
PDE7B-AS1 | ENST00000626605.1 | n.214+1403G>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0180 AC: 2735AN: 152040Hom.: 54 Cov.: 32
GnomAD4 genome ? AF: 0.0180 AC: 2734AN: 152158Hom.: 54 Cov.: 32 AF XY: 0.0204 AC XY: 1517AN XY: 74386
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at