rs982000290
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001198568.2(ADCY4):āc.2825G>Cā(p.Gly942Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,880 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G942E) has been classified as Uncertain significance.
Frequency
Consequence
NM_001198568.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADCY4 | NM_001198568.2 | c.2825G>C | p.Gly942Ala | missense_variant | Exon 22 of 25 | ENST00000418030.7 | NP_001185497.1 | |
ADCY4 | NM_001198592.2 | c.2825G>C | p.Gly942Ala | missense_variant | Exon 23 of 26 | NP_001185521.1 | ||
ADCY4 | NM_139247.4 | c.2825G>C | p.Gly942Ala | missense_variant | Exon 23 of 26 | NP_640340.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461880Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727244
GnomAD4 genome Cov.: 32
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.