rs3828628
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_020546.3(ADCY2):c.570+71G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.227 in 1,576,390 control chromosomes in the GnomAD database, including 42,149 homozygotes. 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
Genomes: 𝑓 0.20 ( 3408 hom., cov: 32)
Exomes 𝑓: 0.23 ( 38741 hom. )
Consequence
ADCY2
NM_020546.3 intron
NM_020546.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0490
Genes affected
ADCY2 (HGNC:233): (adenylate cyclase 2) This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.323 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADCY2 | NM_020546.3 | c.570+71G>A | intron_variant | ENST00000338316.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADCY2 | ENST00000338316.9 | c.570+71G>A | intron_variant | 1 | NM_020546.3 | P1 | |||
ADCY2 | ENST00000484965.5 | n.304+71G>A | intron_variant, non_coding_transcript_variant | 3 | |||||
ADCY2 | ENST00000498598.1 | n.269+71G>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.200 AC: 30465AN: 151978Hom.: 3407 Cov.: 32
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GnomAD4 exome AF: 0.229 AC: 326651AN: 1424294Hom.: 38741 AF XY: 0.234 AC XY: 165691AN XY: 708166
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GnomAD4 genome ? AF: 0.200 AC: 30471AN: 152096Hom.: 3408 Cov.: 32 AF XY: 0.208 AC XY: 15441AN XY: 74336
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at