rs11964090

Variant names:

• chr6-41131426-T-C
• rs11964090
• ENST00000567255.2:n.3418-868T>C

Variant summary

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

The ENST00000567255.2(ADCY10P1):​n.3418-868T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.1 in 152,300 control chromosomes in the GnomAD database, including 800 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 0.10 (800 hom., cov: 32)
• Consequence: ADCY10P1 ENST00000567255.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0760
• Publications: 2 publications found

Genes affected

ADCY10P1 (HGNC:):

ADCY10P1 (HGNC:44143): (ADCY10 pseudogene 1)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.11 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ADCY10P1	NR_026938.2	n.3418-868T>C		intron_variant	Intron 17 of 22

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ADCY10P1	ENST00000567255.2	n.3418-868T>C		intron_variant	Intron 17 of 22	1
ADCY10P1	ENST00000457653.8	n.2615-868T>C		intron_variant	Intron 16 of 23	6

Frequencies

GnomAD3 genomes AF: 0.100 AC: 15294 AN: 152182 Hom.: 801 Cov.: 32

Gnomad AFR AF: 0.0908

Gnomad AMI AF: 0.124

Gnomad AMR AF: 0.110

Gnomad ASJ AF: 0.143

Gnomad EAS AF: 0.00576

Gnomad SAS AF: 0.0902

Gnomad FIN AF: 0.0838

Gnomad MID AF: 0.149

Gnomad NFE AF: 0.112

Gnomad OTH AF: 0.109

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

GnomAD4 genome AF: 0.100 AC: 15296 AN: 152300 Hom.: 800 Cov.: 32 AF XY: 0.0996 AC XY: 7418 AN XY: 74466

African (AFR) AF: 0.0906 AC: 3767 AN: 41558

American (AMR) AF: 0.110 AC: 1683 AN: 15304

Ashkenazi Jewish (ASJ) AF: 0.143 AC: 496 AN: 3470

East Asian (EAS) AF: 0.00578 AC: 30 AN: 5192

South Asian (SAS) AF: 0.0893 AC: 431 AN: 4828

European-Finnish (FIN) AF: 0.0838 AC: 889 AN: 10608

Middle Eastern (MID) AF: 0.153 AC: 45 AN: 294

European-Non Finnish (NFE) AF: 0.112 AC: 7611 AN: 68020

Other (OTH) AF: 0.109 AC: 231 AN: 2116

Alfa AF: 0.111 Hom.: 146

Bravo AF: 0.103

Asia WGS AF: 0.0570 AC: 201 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	3.4
DANN	Benign	0.60
PhyloP100		0.076

Splicing

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

Other links and lift over

dbSNP: rs11964090; hg19: chr6-41099165;