chr5-7757581-A-G
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM2PP2PP3_Strong
The NM_020546.3(ADCY2):c.2089A>G(p.Asn697Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N697S) has been classified as Uncertain significance.
Frequency
Consequence
NM_020546.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADCY2 | NM_020546.3 | c.2089A>G | p.Asn697Asp | missense_variant | 16/25 | ENST00000338316.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADCY2 | ENST00000338316.9 | c.2089A>G | p.Asn697Asp | missense_variant | 16/25 | 1 | NM_020546.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000808 AC: 2AN: 247644Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 133856
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 21, 2024 | The c.2089A>G (p.N697D) alteration is located in exon 16 (coding exon 16) of the ADCY2 gene. This alteration results from a A to G substitution at nucleotide position 2089, causing the asparagine (N) at amino acid position 697 to be replaced by an aspartic acid (D). 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