rs11250464

Positions:

• chr10-1364169-T-C

Variant summary

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

The NM_018702.4(ADARB2):​c.188-252A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.28 in 152,176 control chromosomes in the GnomAD database, including 6,711 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 0.28 (6711 hom., cov: 33)
• Consequence: ADARB2 NM_018702.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0280

Genes affected

ADARB2 (HGNC:227): (adenosine deaminase RNA specific B2 (inactive)) This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.345 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ADARB2	NM_018702.4	c.188-252A>G		intron_variant		ENST00000381312.6	NP_061172.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ADARB2	ENST00000381312.6	c.188-252A>G		intron_variant		1	NM_018702.4	ENSP00000370713	P1

Frequencies

GnomAD3 genomes AF: 0.280 AC: 42577 AN: 152058 Hom.: 6714 Cov.: 33

Gnomad AFR AF: 0.188

Gnomad AMI AF: 0.282

Gnomad AMR AF: 0.256

Gnomad ASJ AF: 0.479

Gnomad EAS AF: 0.00327

Gnomad SAS AF: 0.221

Gnomad FIN AF: 0.314

Gnomad MID AF: 0.434

Gnomad NFE AF: 0.349

Gnomad OTH AF: 0.321

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

GnomAD4 genome AF: 0.280 AC: 42587 AN: 152176 Hom.: 6711 Cov.: 33 AF XY: 0.277 AC XY: 20586 AN XY: 74404

Gnomad4 AFR AF: 0.188

Gnomad4 AMR AF: 0.256

Gnomad4 ASJ AF: 0.479

Gnomad4 EAS AF: 0.00347

Gnomad4 SAS AF: 0.221

Gnomad4 FIN AF: 0.314

Gnomad4 NFE AF: 0.349

Gnomad4 OTH AF: 0.317

Alfa AF: 0.325 Hom.: 6204

Bravo AF: 0.268

Asia WGS AF: 0.109 AC: 380 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.5
DANN	Benign	0.50

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs11250464; hg19: chr10-1406364;