rs17694555

Positions:

• chr9-22051296-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.1252+2068A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0585 in 152,190 control chromosomes in the GnomAD database, including 324 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 0.058 (324 hom., cov: 32)
• Consequence: CDKN2B-AS1 ENST00000428597.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0430

Genes affected

CDKN2B-AS1 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0875 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CDKN2B-AS1	NR_003529.4	n.1252+2068A>G		intron_variant
CDKN2B-AS1	NR_047532.2	n.939+2068A>G		intron_variant
CDKN2B-AS1	NR_047533.2	n.644+2068A>G		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CDKN2B-AS1	ENST00000428597.6	n.1252+2068A>G		intron_variant		1
CDKN2B-AS1	ENST00000455933.7	n.613+2068A>G		intron_variant		1
CDKN2B-AS1	ENST00000577551.5	n.533+2068A>G		intron_variant		1

Frequencies

GnomAD3 genomes AF: 0.0586 AC: 8906 AN: 152072 Hom.: 324 Cov.: 32

Gnomad AFR AF: 0.0145

Gnomad AMI AF: 0.0219

Gnomad AMR AF: 0.0490

Gnomad ASJ AF: 0.0573

Gnomad EAS AF: 0.0183

Gnomad SAS AF: 0.0373

Gnomad FIN AF: 0.0801

Gnomad MID AF: 0.0918

Gnomad NFE AF: 0.0894

Gnomad OTH AF: 0.0511

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

GnomAD4 genome AF: 0.0585 AC: 8903 AN: 152190 Hom.: 324 Cov.: 32 AF XY: 0.0582 AC XY: 4329 AN XY: 74408

Gnomad4 AFR AF: 0.0145

Gnomad4 AMR AF: 0.0489

Gnomad4 ASJ AF: 0.0573

Gnomad4 EAS AF: 0.0187

Gnomad4 SAS AF: 0.0375

Gnomad4 FIN AF: 0.0801

Gnomad4 NFE AF: 0.0894

Gnomad4 OTH AF: 0.0506

Alfa AF: 0.0812 Hom.: 111

Bravo AF: 0.0529

Asia WGS AF: 0.0310 AC: 108 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	1.3
DANN	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17694555; hg19: chr9-22051295;