Variant rs7341786 details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NR_003529.3(CDKN2B-AS1):n.2699-78A>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.644 in 152,068 control chromosomes in the GnomAD database, including 33,600 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 0.64 ( 33593 hom., cov: 31)

Exomes 𝑓: 0.55 ( 7 hom. )

Consequence

CDKN2B-AS1
NR_003529.3 intron, non_coding_transcript

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.778

Variant links:

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]

CDKN2B-AS1 links:

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.91).

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.889 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CDKN2B-AS1	NR_003529.3 linkuse as main transcript	n.2699-78A>C		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CDKN2B-AS1	ENST00000650946.1 linkuse as main transcript	n.439-14861A>C		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes

AF:

0.644

AC:

97765

AN:

151906

Hom.:

33549

Cov.:

show subpopulations

Gnomad AFR

AF:

0.897

Gnomad AMI

AF:

0.498

Gnomad AMR

AF:

0.614

Gnomad ASJ

AF:

0.677

Gnomad EAS

AF:

0.673

Gnomad SAS

AF:

0.626

Gnomad FIN

AF:

0.434

Gnomad MID

AF:

0.753

Gnomad NFE

AF:

0.527

Gnomad OTH

AF:

0.665

GnomAD4 exome

AF:

0.545

AC:

AN:

Hom.:

Cov.:

AF XY:

0.464

AC XY:

AN XY:

show subpopulations

Gnomad4 AFR exome

AF:

0.500

Gnomad4 ASJ exome

AF:

0.500

Gnomad4 NFE exome

AF:

0.529

Gnomad4 OTH exome

AF:

0.500

GnomAD4 genome

AF:

0.644

AC:

97866

AN:

152024

Hom.:

33593

Cov.:

AF XY:

0.636

AC XY:

47213

AN XY:

74286

show subpopulations

Gnomad4 AFR

AF:

0.897

Gnomad4 AMR

AF:

0.614

Gnomad4 ASJ

AF:

0.677

Gnomad4 EAS

AF:

0.673

Gnomad4 SAS

AF:

0.625

Gnomad4 FIN

AF:

0.434

Gnomad4 NFE

AF:

0.527

Gnomad4 OTH

AF:

0.660

Alfa

AF:

0.577

Hom.:

8197

Bravo

AF:

0.665

Asia WGS

AF:

0.640

AC:

2226

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.91

CADD

Benign

0.48

DANN

Benign

0.53

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Computational scores

Splicing

Publications

LitVar

Other links and lift over