rs8192595

Variant names:

• chr18-907520-A-C
• rs8192595
• NM_001099733.2:c.111-139A>C

Your query was ambiguous. Multiple possible variants found:

• chr18-907520-A-C
• chr18-907520-A-G
• chr18-907520-A-T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_001099733.2(ADCYAP1):​c.111-139A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000131 in 765,616 control chromosomes in the GnomAD database, with no homozygous occurrence. 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: not found (cov: 33)
  • Exomes 𝑓: 0.0000013 (0 hom.)
• Consequence: ADCYAP1 NM_001099733.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.26
• Publications: 0 publications found

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]

ENSG00000265179 (HGNC:):

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ADCYAP1	NM_001099733.2	c.111-139A>C		intron_variant	Intron 2 of 4	ENST00000450565.8	NP_001093203.1
ADCYAP1	NM_001117.5	c.111-139A>C		intron_variant	Intron 1 of 3		NP_001108.2
ADCYAP1	XM_005258081.5	c.528-139A>C		intron_variant	Intron 3 of 5		XP_005258138.2
ADCYAP1	XM_047437288.1	c.111-139A>C		intron_variant	Intron 2 of 4		XP_047293244.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ADCYAP1	ENST00000450565.8	c.111-139A>C		intron_variant	Intron 2 of 4	1	NM_001099733.2	ENSP00000411658.3

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome AF: 0.00000131 AC: 1 AN: 765616 Hom.: 0 Cov.: 10 AF XY: 0.00 AC XY: 0 AN XY: 386040

African (AFR) AF: 0.00 AC: 0 AN: 15610

American (AMR) AF: 0.00 AC: 0 AN: 15676

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 14628

East Asian (EAS) AF: 0.00 AC: 0 AN: 25502

South Asian (SAS) AF: 0.00 AC: 0 AN: 47216

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 30220

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 3988

European-Non Finnish (NFE) AF: 0.00000173 AC: 1 AN: 577264

Other (OTH) AF: 0.00 AC: 0 AN: 35512

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.3
DANN	Benign	0.24
PhyloP100		-1.3

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.020		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs8192595; hg19: chr18-907521;