12-1781877-G-C

Position:

• chr12-1781877-G-C

Variant summary

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

The NM_024551.3(ADIPOR2):​c.838+801G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.553 in 152,096 control chromosomes in the GnomAD database, including 23,898 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 0.55 (23898 hom., cov: 33)
• Consequence: ADIPOR2 NM_024551.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.28

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=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.672 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ADIPOR2	NM_024551.3	c.838+801G>C		intron_variant		ENST00000357103.5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ADIPOR2	ENST00000357103.5	c.838+801G>C		intron_variant		1	NM_024551.3	P1

Frequencies

GnomAD3 genomes AF: 0.553 AC: 84000 AN: 151978 Hom.: 23857 Cov.: 33

Gnomad AFR AF: 0.678

Gnomad AMI AF: 0.392

Gnomad AMR AF: 0.619

Gnomad ASJ AF: 0.525

Gnomad EAS AF: 0.599

Gnomad SAS AF: 0.586

Gnomad FIN AF: 0.482

Gnomad MID AF: 0.579

Gnomad NFE AF: 0.469

Gnomad OTH AF: 0.586

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

GnomAD4 genome AF: 0.553 AC: 84093 AN: 152096 Hom.: 23898 Cov.: 33 AF XY: 0.556 AC XY: 41287 AN XY: 74322

Gnomad4 AFR AF: 0.678

Gnomad4 AMR AF: 0.620

Gnomad4 ASJ AF: 0.525

Gnomad4 EAS AF: 0.598

Gnomad4 SAS AF: 0.586

Gnomad4 FIN AF: 0.482

Gnomad4 NFE AF: 0.469

Gnomad4 OTH AF: 0.587

Alfa AF: 0.510 Hom.: 2570

Bravo AF: 0.570

Asia WGS AF: 0.613 AC: 2128 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.44
DANN	Benign	0.30

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: rs2286384; hg19: chr12-1891043;