rs7907913

Variant names:

• chr10-1722858-G-C
• rs7907913
• NM_018702.4:c.100+14193C>G

Your query was ambiguous. Multiple possible variants found:

• chr10-1722858-G-C
• chr10-1722858-G-T

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 2 publications found

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

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt
ADARB2	NM_018702.4	c.100+14193C>G		intron_variant	Intron 1 of 9	ENST00000381312.6	NP_061172.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ADARB2	ENST00000381312.6	c.100+14193C>G		intron_variant	Intron 1 of 9	1	NM_018702.4	ENSP00000370713.1

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

African (AFR) AF: 0.392 AC: 16242 AN: 41476

American (AMR) AF: 0.531 AC: 8113 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.583 AC: 2021 AN: 3468

East Asian (EAS) AF: 0.521 AC: 2694 AN: 5166

South Asian (SAS) AF: 0.761 AC: 3677 AN: 4832

European-Finnish (FIN) AF: 0.593 AC: 6242 AN: 10530

Middle Eastern (MID) AF: 0.707 AC: 208 AN: 294

European-Non Finnish (NFE) AF: 0.684 AC: 46545 AN: 68000

Other (OTH) AF: 0.591 AC: 1248 AN: 2110

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
PhyloP100		-0.33
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs7907913; hg19: chr10-1765052;