rs7087507

Positions:

• chr10-61985930-A-G

Variant summary

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

The ENST00000279873.12(ARID5B):​c.503-14161A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.337 in 151,820 control chromosomes in the GnomAD database, including 8,820 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 0.34 (8820 hom., cov: 31)
• Consequence: ARID5B ENST00000279873.12 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.07

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=-0.56).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.48 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ARID5B	NM_032199.3	c.503-14161A>G		intron_variant		ENST00000279873.12	NP_115575.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ARID5B	ENST00000279873.12	c.503-14161A>G		intron_variant		1	NM_032199.3	ENSP00000279873	P3
ARID5B	ENST00000644638.1	c.503-14161A>G		intron_variant				ENSP00000494412
ARID5B	ENST00000681100.1	c.503-14161A>G		intron_variant				ENSP00000506119

Frequencies

GnomAD3 genomes AF: 0.337 AC: 51094 AN: 151700 Hom.: 8810 Cov.: 31

Gnomad AFR AF: 0.292

Gnomad AMI AF: 0.295

Gnomad AMR AF: 0.451

Gnomad ASJ AF: 0.319

Gnomad EAS AF: 0.364

Gnomad SAS AF: 0.495

Gnomad FIN AF: 0.289

Gnomad MID AF: 0.386

Gnomad NFE AF: 0.333

Gnomad OTH AF: 0.350

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

GnomAD4 genome AF: 0.337 AC: 51146 AN: 151820 Hom.: 8820 Cov.: 31 AF XY: 0.340 AC XY: 25246 AN XY: 74160

Gnomad4 AFR AF: 0.292

Gnomad4 AMR AF: 0.451

Gnomad4 ASJ AF: 0.319

Gnomad4 EAS AF: 0.364

Gnomad4 SAS AF: 0.497

Gnomad4 FIN AF: 0.289

Gnomad4 NFE AF: 0.333

Gnomad4 OTH AF: 0.349

Alfa AF: 0.315 Hom.: 952

Bravo AF: 0.348

Asia WGS AF: 0.365 AC: 1267 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.56
CADD	Benign	9.9
DANN	Benign	0.89

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: rs7087507; hg19: chr10-63745689;