10-1722858-G-C

Position:

• chr10-1722858-G-C

Variant summary

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

The NM_018702.4(ADARB2):​c.100+14193C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.575 in 152,072 control chromosomes in the GnomAD database, including 26,411 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 0.58 (26411 hom., cov: 34)
• Consequence: ADARB2 NM_018702.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.327

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=-0.88).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.74 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ADARB2	NM_018702.4	c.100+14193C>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.100+14193C>G		intron_variant		1	NM_018702.4	ENSP00000370713	P1

Frequencies

GnomAD3 genomes AF: 0.575 AC: 87445 AN: 151954 Hom.: 26408 Cov.: 34

Gnomad AFR AF: 0.392

Gnomad AMI AF: 0.524

Gnomad AMR AF: 0.531

Gnomad ASJ AF: 0.583

Gnomad EAS AF: 0.521

Gnomad SAS AF: 0.761

Gnomad FIN AF: 0.593

Gnomad MID AF: 0.709

Gnomad NFE AF: 0.684

Gnomad OTH AF: 0.588

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

GnomAD4 genome AF: 0.575 AC: 87468 AN: 152072 Hom.: 26411 Cov.: 34 AF XY: 0.573 AC XY: 42599 AN XY: 74316

Gnomad4 AFR AF: 0.392

Gnomad4 AMR AF: 0.531

Gnomad4 ASJ AF: 0.583

Gnomad4 EAS AF: 0.521

Gnomad4 SAS AF: 0.761

Gnomad4 FIN AF: 0.593

Gnomad4 NFE AF: 0.684

Gnomad4 OTH AF: 0.591

Alfa AF: 0.549 Hom.: 1881

Bravo AF: 0.557

Asia WGS AF: 0.636 AC: 2212 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.15
DANN	Benign	0.35

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: rs7907913; hg19: chr10-1765052;