8-130800431-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PP3_Strong
The NM_001115.3(ADCY8):c.3055G>A(p.Asp1019Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,613,970 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001115.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADCY8 | NM_001115.3 | c.3055G>A | p.Asp1019Asn | missense_variant | Exon 15 of 18 | ENST00000286355.10 | NP_001106.1 | |
ADCY8 | XM_005250769.4 | c.2965G>A | p.Asp989Asn | missense_variant | Exon 14 of 17 | XP_005250826.1 | ||
ADCY8 | XM_006716501.4 | c.2857G>A | p.Asp953Asn | missense_variant | Exon 14 of 17 | XP_006716564.1 | ||
ADCY8 | XM_017013006.2 | c.2767G>A | p.Asp923Asn | missense_variant | Exon 13 of 16 | XP_016868495.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADCY8 | ENST00000286355.10 | c.3055G>A | p.Asp1019Asn | missense_variant | Exon 15 of 18 | 1 | NM_001115.3 | ENSP00000286355.5 | ||
ADCY8 | ENST00000377928.7 | c.2662G>A | p.Asp888Asn | missense_variant | Exon 12 of 15 | 1 | ENSP00000367161.3 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152124Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251468Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135902
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461846Hom.: 0 Cov.: 33 AF XY: 0.00000275 AC XY: 2AN XY: 727230
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152124Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3055G>A (p.D1019N) alteration is located in exon 15 (coding exon 15) of the ADCY8 gene. This alteration results from a G to A substitution at nucleotide position 3055, causing the aspartic acid (D) at amino acid position 1019 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at