rs8192595
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001099733.2(ADCYAP1):c.111-139A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0901 in 917,128 control chromosomes in the GnomAD database, including 3,931 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 0.080 ( 554 hom., cov: 33)
Exomes 𝑓: 0.092 ( 3377 hom. )
Consequence
ADCYAP1
NM_001099733.2 intron
NM_001099733.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.26
Genes affected
ADCYAP1 (HGNC:241): (adenylate cyclase activating polypeptide 1) This gene encodes a secreted proprotein that is further processed into multiple mature peptides. These peptides stimulate adenylate cyclase and increase cyclic adenosine monophosphate (cAMP) levels, resulting in the transcriptional activation of target genes. The products of this gene are key mediators of neuroendocrine stress responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
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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=-0.89).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0925 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADCYAP1 | NM_001099733.2 | c.111-139A>G | intron_variant | ENST00000450565.8 | |||
ADCYAP1 | NM_001117.5 | c.111-139A>G | intron_variant | ||||
ADCYAP1 | XM_005258081.5 | c.528-139A>G | intron_variant | ||||
ADCYAP1 | XM_047437288.1 | c.111-139A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADCYAP1 | ENST00000450565.8 | c.111-139A>G | intron_variant | 1 | NM_001099733.2 | P1 | |||
ADCYAP1 | ENST00000579794.1 | c.111-139A>G | intron_variant | 1 | P1 | ||||
ENST00000582554.1 | n.90+71T>C | intron_variant, non_coding_transcript_variant | 5 | ||||||
ADCYAP1 | ENST00000269200.5 | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0803 AC: 12216AN: 152056Hom.: 553 Cov.: 33
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GnomAD4 exome AF: 0.0920 AC: 70413AN: 764958Hom.: 3377 Cov.: 10 AF XY: 0.0900 AC XY: 34702AN XY: 385718
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GnomAD4 genome AF: 0.0803 AC: 12222AN: 152170Hom.: 554 Cov.: 33 AF XY: 0.0802 AC XY: 5963AN XY: 74388
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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