rs11790231

Variant names:

• chr9-22053592-G-A
• rs11790231
• ENST00000428597.7:n.1253-2660G>A

Your query was ambiguous. Multiple possible variants found:

• chr9-22053592-G-A
• chr9-22053592-G-C
• chr9-22053592-G-T

Variant summary

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

The ENST00000428597.7(CDKN2B-AS1):​n.1253-2660G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0927 in 152,088 control chromosomes in the GnomAD database, including 817 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 0.093 (817 hom., cov: 33)
• Consequence: CDKN2B-AS1 ENST00000428597.7 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.506
• Publications: 10 publications found

Genes affected

CDKN2B-AS1 (HGNC:34341): (CDKN2B antisense RNA 1) This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960). [provided by RefSeq, May 2014]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.185 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000428597.7. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CDKN2B-AS1	NR_003529.4	MANE Select	n.1253-2660G>A		intron	N/A
	CDKN2B-AS1	NR_047532.2		n.940-2660G>A		intron	N/A
	CDKN2B-AS1	NR_047533.2		n.644+4364G>A		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CDKN2B-AS1	ENST00000428597.7	TSL:1 MANE Select	n.1253-2660G>A		intron	N/A
	CDKN2B-AS1	ENST00000455933.8	TSL:1	n.614-2660G>A		intron	N/A
	CDKN2B-AS1	ENST00000577551.5	TSL:1	n.533+4364G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.0928 AC: 14096 AN: 151970 Hom.: 817 Cov.: 33

Gnomad AFR AF: 0.0394

Gnomad AMI AF: 0.0484

Gnomad AMR AF: 0.0884

Gnomad ASJ AF: 0.110

Gnomad EAS AF: 0.194

Gnomad SAS AF: 0.127

Gnomad FIN AF: 0.132

Gnomad MID AF: 0.161

Gnomad NFE AF: 0.109

Gnomad OTH AF: 0.114

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

GnomAD4 genome AF: 0.0927 AC: 14103 AN: 152088 Hom.: 817 Cov.: 33 AF XY: 0.0933 AC XY: 6936 AN XY: 74308

African (AFR) AF: 0.0393 AC: 1633 AN: 41514

American (AMR) AF: 0.0884 AC: 1350 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.110 AC: 383 AN: 3470

East Asian (EAS) AF: 0.195 AC: 1009 AN: 5168

South Asian (SAS) AF: 0.127 AC: 610 AN: 4814

European-Finnish (FIN) AF: 0.132 AC: 1397 AN: 10548

Middle Eastern (MID) AF: 0.167 AC: 49 AN: 294

European-Non Finnish (NFE) AF: 0.109 AC: 7387 AN: 67990

Other (OTH) AF: 0.115 AC: 241 AN: 2104

Alfa AF: 0.101 Hom.: 1318

Bravo AF: 0.0881

Asia WGS AF: 0.126 AC: 436 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	2.2
DANN	Benign	0.51
PhyloP100		-0.51

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs11790231;

hg19: chr9-22053591;