rs2393732

Positions:

• chr10-62007470-G-A
• chr10-62007470-G-T

Variant summary

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

The NM_032199.3(ARID5B):​c.733+7149G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.15 in 152,056 control chromosomes in the GnomAD database, including 3,563 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 0.15 (3563 hom., cov: 32)
• Consequence: ARID5B NM_032199.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.65

Genes affected

ARID5B (HGNC:17362): (AT-rich interaction domain 5B) This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.385 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ARID5B	NM_032199.3	c.733+7149G>A		intron_variant		ENST00000279873.12	NP_115575.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ARID5B	ENST00000279873.12	c.733+7149G>A		intron_variant		1	NM_032199.3	ENSP00000279873.7
ARID5B	ENST00000644638.1	c.733+7149G>A		intron_variant				ENSP00000494412.1
ARID5B	ENST00000681100.1	c.733+7149G>A		intron_variant				ENSP00000506119.1

Frequencies

GnomAD3 genomes AF: 0.150 AC: 22760 AN: 151938 Hom.: 3538 Cov.: 32

Gnomad AFR AF: 0.389

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.187

Gnomad ASJ AF: 0.0369

Gnomad EAS AF: 0.103

Gnomad SAS AF: 0.0814

Gnomad FIN AF: 0.0480

Gnomad MID AF: 0.0316

Gnomad NFE AF: 0.0299

Gnomad OTH AF: 0.127

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

GnomAD4 genome AF: 0.150 AC: 22847 AN: 152056 Hom.: 3563 Cov.: 32 AF XY: 0.149 AC XY: 11115 AN XY: 74354

Gnomad4 AFR AF: 0.390

Gnomad4 AMR AF: 0.187

Gnomad4 ASJ AF: 0.0369

Gnomad4 EAS AF: 0.102

Gnomad4 SAS AF: 0.0814

Gnomad4 FIN AF: 0.0480

Gnomad4 NFE AF: 0.0299

Gnomad4 OTH AF: 0.125

Alfa AF: 0.117 Hom.: 357

Bravo AF: 0.175

Asia WGS AF: 0.113 AC: 393 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.025
DANN	Benign	0.37

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: rs2393732; hg19: chr10-63767229;