rs7514221

Positions:

• chr1-202957385-C-T

Variant summary

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

The NM_015999.6(ADIPOR1):​c.-95+800G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.583 in 151,762 control chromosomes in the GnomAD database, including 26,020 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 0.58 (26020 hom., cov: 30)
• Consequence: ADIPOR1 NM_015999.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.295

Genes affected

ADIPOR1 (HGNC:24040): (adiponectin receptor 1) This gene encodes a protein which acts as a receptor for adiponectin, a hormone secreted by adipocytes which regulates fatty acid catabolism and glucose levels. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. A pseudogene of this gene is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2014]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.808 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ADIPOR1	NM_015999.6	c.-95+800G>A		intron_variant		ENST00000340990.10

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ADIPOR1	ENST00000340990.10	c.-95+800G>A		intron_variant		1	NM_015999.6	P1
ADIPOR1	ENST00000367254.7	c.-95+800G>A		intron_variant		1
ADIPOR1	ENST00000417068.5	c.-162+1090G>A		intron_variant		3
ADIPOR1	ENST00000426229.1	c.-162+800G>A		intron_variant		2

Frequencies

GnomAD3 genomes AF: 0.583 AC: 88383 AN: 151644 Hom.: 25971 Cov.: 30

Gnomad AFR AF: 0.594

Gnomad AMI AF: 0.318

Gnomad AMR AF: 0.614

Gnomad ASJ AF: 0.474

Gnomad EAS AF: 0.828

Gnomad SAS AF: 0.576

Gnomad FIN AF: 0.528

Gnomad MID AF: 0.462

Gnomad NFE AF: 0.569

Gnomad OTH AF: 0.577

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

GnomAD4 genome AF: 0.583 AC: 88492 AN: 151762 Hom.: 26020 Cov.: 30 AF XY: 0.584 AC XY: 43271 AN XY: 74134

Gnomad4 AFR AF: 0.594

Gnomad4 AMR AF: 0.615

Gnomad4 ASJ AF: 0.474

Gnomad4 EAS AF: 0.829

Gnomad4 SAS AF: 0.576

Gnomad4 FIN AF: 0.528

Gnomad4 NFE AF: 0.569

Gnomad4 OTH AF: 0.582

Alfa AF: 0.569 Hom.: 50102

Bravo AF: 0.590

Asia WGS AF: 0.707 AC: 2456 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	1.3
DANN	Benign	0.47

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: rs7514221; hg19: chr1-202926513;