chr12-1722472-G-A

Position:

• chr12-1722472-G-A

Variant summary

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

The NM_024551.3(ADIPOR2):​c.-87+31281G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0203 in 152,280 control chromosomes in the GnomAD database, including 66 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 0.020 (66 hom., cov: 31)
• Consequence: ADIPOR2 NM_024551.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.225

Genes affected

ADIPOR2 (HGNC:24041): (adiponectin receptor 2) The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.0898 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ADIPOR2	NM_024551.3	c.-87+31281G>A		intron_variant		ENST00000357103.5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ADIPOR2	ENST00000357103.5	c.-87+31281G>A		intron_variant		1	NM_024551.3	P1
ADIPOR2	ENST00000537545.1	n.145-31786G>A		intron_variant, non_coding_transcript_variant		3
ADIPOR2	ENST00000540974.1	n.149-8253G>A		intron_variant, non_coding_transcript_variant		3

Frequencies

GnomAD3 genomes AF: 0.0203 AC: 3089 AN: 152162 Hom.: 66 Cov.: 31

Gnomad AFR AF: 0.00379

Gnomad AMI AF: 0.00219

Gnomad AMR AF: 0.0178

Gnomad ASJ AF: 0.00547

Gnomad EAS AF: 0.0970

Gnomad SAS AF: 0.00662

Gnomad FIN AF: 0.0505

Gnomad MID AF: 0.00316

Gnomad NFE AF: 0.0223

Gnomad OTH AF: 0.0239

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

GnomAD4 genome AF: 0.0203 AC: 3089 AN: 152280 Hom.: 66 Cov.: 31 AF XY: 0.0213 AC XY: 1584 AN XY: 74442

Gnomad4 AFR AF: 0.00378

Gnomad4 AMR AF: 0.0178

Gnomad4 ASJ AF: 0.00547

Gnomad4 EAS AF: 0.0968

Gnomad4 SAS AF: 0.00662

Gnomad4 FIN AF: 0.0505

Gnomad4 NFE AF: 0.0223

Gnomad4 OTH AF: 0.0246

Alfa AF: 0.0201 Hom.: 8

Bravo AF: 0.0172

Asia WGS AF: 0.0380 AC: 132 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	2.8
DANN	Benign	0.63
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.1

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: rs11612414; hg19: chr12-1831638;