rs2283497
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001116.4(ADCY9):c.1694-8502C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,934 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
NM_001116.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADCY9 | NM_001116.4 | c.1694-8502C>T | intron_variant | ENST00000294016.8 | |||
ADCY9 | XM_005255079.4 | c.1694-8502C>T | intron_variant | ||||
ADCY9 | XM_011522353.3 | c.1694-8502C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADCY9 | ENST00000294016.8 | c.1694-8502C>T | intron_variant | 1 | NM_001116.4 | P1 | |||
ADCY9 | ENST00000572288.1 | c.278-8502C>T | intron_variant | 4 | |||||
ADCY9 | ENST00000571467.1 | c.177-22550C>T | intron_variant, NMD_transcript_variant | 5 | |||||
ADCY9 | ENST00000571889.1 | n.157-8502C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 151818Hom.: 0 Cov.: 31
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151934Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74254
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.