rs6986982

Variant names:

• chr8-130975129-G-A
• rs6986982
• NM_001115.3:c.1110+15264C>T

Your query was ambiguous. Multiple possible variants found:

• chr8-130975129-G-A
• chr8-130975129-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001115.3(ADCY8):​c.1110+15264C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.236 in 152,060 control chromosomes in the GnomAD database, including 5,769 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 0.24 (5769 hom., cov: 33)
• Consequence: ADCY8 NM_001115.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.955
• Publications: 5 publications found

Genes affected

ADCY8 (HGNC:239): (adenylate cyclase 8) Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.451 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001115.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ADCY8	NM_001115.3	MANE Select	c.1110+15264C>T		intron	N/A	NP_001106.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ADCY8	ENST00000286355.10	TSL:1 MANE Select	c.1110+15264C>T		intron	N/A	ENSP00000286355.5
	ADCY8	ENST00000377928.7	TSL:1	c.1110+15264C>T		intron	N/A	ENSP00000367161.3
	ADCY8	ENST00000522949.1	TSL:5	c.-46+15310C>T		intron	N/A	ENSP00000428010.1

Frequencies

GnomAD3 genomes AF: 0.236 AC: 35847 AN: 151940 Hom.: 5762 Cov.: 33

Gnomad AFR AF: 0.457

Gnomad AMI AF: 0.0493

Gnomad AMR AF: 0.206

Gnomad ASJ AF: 0.174

Gnomad EAS AF: 0.0798

Gnomad SAS AF: 0.225

Gnomad FIN AF: 0.0883

Gnomad MID AF: 0.278

Gnomad NFE AF: 0.150

Gnomad OTH AF: 0.233

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.236 AC: 35872 AN: 152060 Hom.: 5769 Cov.: 33 AF XY: 0.229 AC XY: 17041 AN XY: 74362

African (AFR) AF: 0.457 AC: 18914 AN: 41410

American (AMR) AF: 0.206 AC: 3141 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.174 AC: 603 AN: 3468

East Asian (EAS) AF: 0.0798 AC: 413 AN: 5174

South Asian (SAS) AF: 0.223 AC: 1072 AN: 4812

European-Finnish (FIN) AF: 0.0883 AC: 936 AN: 10606

Middle Eastern (MID) AF: 0.269 AC: 79 AN: 294

European-Non Finnish (NFE) AF: 0.150 AC: 10187 AN: 68002

Other (OTH) AF: 0.229 AC: 482 AN: 2108

Alfa AF: 0.178 Hom.: 5080

Bravo AF: 0.255

Asia WGS AF: 0.166 AC: 578 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.49
DANN	Benign	0.75
PhyloP100		-0.95
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		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: rs6986982; hg19: chr8-131987375;