9-22096056-A-G

Position:

• chr9-22096056-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000428597.6(CDKN2B-AS1):​n.2449-316A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.415 in 151,878 control chromosomes in the GnomAD database, including 14,245 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as risk factor (no stars).

• Frequency: Genomes: 𝑓 0.41 (14245 hom., cov: 30)
• Consequence: CDKN2B-AS1 ENST00000428597.6 intron
• Clinical Significance: risk factor no assertion criteria provided O:1
• Conservation: PhyloP100: 1.29

Genes affected

CDKN2B-AS1 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.506 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CDKN2B-AS1	NR_003529.4	n.2449-316A>G		intron_variant
CDKN2B-AS1	NR_047532.2	n.1238-316A>G		intron_variant
CDKN2B-AS1	NR_047534.2	n.645-1202A>G		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CDKN2B-AS1	ENST00000428597.6	n.2449-316A>G		intron_variant		1
CDKN2B-AS1	ENST00000577551.5	n.534-16264A>G		intron_variant		1
CDKN2B-AS1	ENST00000580576.6	n.1238-316A>G		intron_variant		1

Frequencies

GnomAD3 genomes AF: 0.415 AC: 63020 AN: 151760 Hom.: 14255 Cov.: 30

Gnomad AFR AF: 0.217

Gnomad AMI AF: 0.492

Gnomad AMR AF: 0.457

Gnomad ASJ AF: 0.623

Gnomad EAS AF: 0.484

Gnomad SAS AF: 0.524

Gnomad FIN AF: 0.434

Gnomad MID AF: 0.646

Gnomad NFE AF: 0.496

Gnomad OTH AF: 0.482

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

GnomAD4 genome AF: 0.415 AC: 63029 AN: 151878 Hom.: 14245 Cov.: 30 AF XY: 0.412 AC XY: 30571 AN XY: 74230

Gnomad4 AFR AF: 0.217

Gnomad4 AMR AF: 0.457

Gnomad4 ASJ AF: 0.623

Gnomad4 EAS AF: 0.484

Gnomad4 SAS AF: 0.523

Gnomad4 FIN AF: 0.434

Gnomad4 NFE AF: 0.496

Gnomad4 OTH AF: 0.478

Alfa AF: 0.489 Hom.: 31104

Bravo AF: 0.406

Asia WGS AF: 0.493 AC: 1714 AN: 3478

ClinVar

Significance: risk factor

Submissions summary: Other:1

Revision: no assertion criteria provided

Submissions by phenotype

Three Vessel Coronary Disease Other:1

risk factor, no assertion criteria provided

clinical testing

Department of Cardiology, Chinese Academy of Medical Sciences, Fuwai Hospital

-

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	11
DANN	Benign	0.76

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10757274; hg19: chr9-22096055;