rs1011970

Positions:

• chr9-22062135-G-T

Variant summary

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

The ENST00000428597.6(CDKN2B-AS1):​n.2158+109G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.226 in 152,074 control chromosomes in the GnomAD database, including 4,372 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 0.23 (4372 hom., cov: 31)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: CDKN2B-AS1 ENST00000428597.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.134

Genes affected

CDKN2B-AS1 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.317 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CDKN2B-AS1	NR_003529.4	n.2158+109G>T		intron_variant
CDKN2B-AS1	NR_047532.2	n.1075+5748G>T		intron_variant
CDKN2B-AS1	NR_047533.2	n.644+12907G>T		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CDKN2B-AS1	ENST00000428597.6	n.2158+109G>T		intron_variant		1
CDKN2B-AS1	ENST00000455933.7	n.749+5748G>T		intron_variant		1
CDKN2B-AS1	ENST00000577551.5	n.533+12907G>T		intron_variant		1

Frequencies

GnomAD3 genomes AF: 0.226 AC: 34370 AN: 151958 Hom.: 4370 Cov.: 31

Gnomad AFR AF: 0.322

Gnomad AMI AF: 0.0899

Gnomad AMR AF: 0.322

Gnomad ASJ AF: 0.169

Gnomad EAS AF: 0.0898

Gnomad SAS AF: 0.242

Gnomad FIN AF: 0.185

Gnomad MID AF: 0.213

Gnomad NFE AF: 0.168

Gnomad OTH AF: 0.206

GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0 AN: 4 Hom.: 0 AF XY: 0.00 AC XY: 0 AN XY: 4

Gnomad4 EAS exome AF: 0.00

Gnomad4 NFE exome AF: 0.00

GnomAD4 genome AF: 0.226 AC: 34413 AN: 152074 Hom.: 4372 Cov.: 31 AF XY: 0.228 AC XY: 16980 AN XY: 74340

Gnomad4 AFR AF: 0.322

Gnomad4 AMR AF: 0.321

Gnomad4 ASJ AF: 0.169

Gnomad4 EAS AF: 0.0898

Gnomad4 SAS AF: 0.243

Gnomad4 FIN AF: 0.185

Gnomad4 NFE AF: 0.168

Gnomad4 OTH AF: 0.204

Alfa AF: 0.175 Hom.: 5553

Bravo AF: 0.241

Asia WGS AF: 0.201 AC: 696 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	4.7
DANN	Benign	0.53

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1011970; hg19: chr9-22062134;