rs4245595

chr10-61963136-C-T

Variant summary

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

The NM_032199.3(ARID5B):c.502+22728C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.688 in 152,026 control chromosomes in the GnomAD database, including 36,400 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 0.69 (36400 hom., cov: 31)
• Consequence: ARID5B NM_032199.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.400

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=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.766 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ARID5B	NM_032199.3	c.502+22728C>T		intron_variant		ENST00000279873.12

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ARID5B	ENST00000279873.12	c.502+22728C>T		intron_variant		1	NM_032199.3	P3
ARID5B	ENST00000644638.1	c.502+22728C>T		intron_variant
ARID5B	ENST00000681100.1	c.502+22728C>T		intron_variant

Frequencies

GnomAD3 genomes AF: 0.688 AC: 104487 AN: 151908 Hom.: 36357 Cov.: 31

Gnomad AFR AF: 0.772

Gnomad AMI AF: 0.707

Gnomad AMR AF: 0.558

Gnomad ASJ AF: 0.682

Gnomad EAS AF: 0.638

Gnomad SAS AF: 0.506

Gnomad FIN AF: 0.739

Gnomad MID AF: 0.631

Gnomad NFE AF: 0.676

Gnomad OTH AF: 0.662

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

GnomAD4 genome AF: 0.688 AC: 104584 AN: 152026 Hom.: 36400 Cov.: 31 AF XY: 0.685 AC XY: 50869 AN XY: 74310

Gnomad4 AFR AF: 0.773

Gnomad4 AMR AF: 0.558

Gnomad4 ASJ AF: 0.682

Gnomad4 EAS AF: 0.638

Gnomad4 SAS AF: 0.505

Gnomad4 FIN AF: 0.739

Gnomad4 NFE AF: 0.675

Gnomad4 OTH AF: 0.663

Alfa AF: 0.705 Hom.: 4727

Bravo AF: 0.677

Asia WGS AF: 0.645 AC: 2244 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
Cadd	Benign	0.97
Dann	Benign	0.70

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: rs4245595; hg19: chr10-63722895;