rs771008212
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001115.3(ADCY8):c.3456G>T(p.Glu1152Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar.
Frequency
Consequence
NM_001115.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADCY8 | NM_001115.3 | c.3456G>T | p.Glu1152Asp | missense_variant | Exon 18 of 18 | ENST00000286355.10 | NP_001106.1 | |
ADCY8 | XM_005250769.4 | c.3366G>T | p.Glu1122Asp | missense_variant | Exon 17 of 17 | XP_005250826.1 | ||
ADCY8 | XM_006716501.4 | c.3258G>T | p.Glu1086Asp | missense_variant | Exon 17 of 17 | XP_006716564.1 | ||
ADCY8 | XM_017013006.2 | c.3168G>T | p.Glu1056Asp | missense_variant | Exon 16 of 16 | XP_016868495.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADCY8 | ENST00000286355.10 | c.3456G>T | p.Glu1152Asp | missense_variant | Exon 18 of 18 | 1 | NM_001115.3 | ENSP00000286355.5 | ||
ADCY8 | ENST00000377928.7 | c.3063G>T | p.Glu1021Asp | missense_variant | Exon 15 of 15 | 1 | ENSP00000367161.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at