rs886039240
Positions:
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015999.6(ADIPOR1):c.31del(p.Gln11ArgfsTer24) variant causes a frameshift change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: not found (cov: 32)
Consequence
ADIPOR1
NM_015999.6 frameshift
NM_015999.6 frameshift
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 4.21
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]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADIPOR1 | NM_015999.6 | c.31del | p.Gln11ArgfsTer24 | frameshift_variant | 2/8 | ENST00000340990.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADIPOR1 | ENST00000340990.10 | c.31del | p.Gln11ArgfsTer24 | frameshift_variant | 2/8 | 1 | NM_015999.6 | P1 | |
ADIPOR1 | ENST00000367254.7 | c.31del | p.Gln11ArgfsTer24 | frameshift_variant | 2/7 | 1 | |||
ADIPOR1 | ENST00000417068.5 | c.31del | p.Gln11ArgfsTer24 | frameshift_variant | 3/7 | 3 | |||
ADIPOR1 | ENST00000426229.1 | c.31del | p.Gln11ArgfsTer24 | frameshift_variant | 3/6 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 genomes
?
Cov.:
32
GnomAD4 exome Cov.: 31
GnomAD4 exome
Cov.:
31
GnomAD4 genome ? Cov.: 32
GnomAD4 genome
?
Cov.:
32
ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:2
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Uncertain:2
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Jan 06, 2022 | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 264709). This premature translational stop signal has been observed in individual(s) with autosomal recessive syndromic retinitis pigmentosa (PMID: 26662040). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln11Argfs*24) in the ADIPOR1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ADIPOR1 cause disease. - |
Uncertain significance, no assertion criteria provided | literature only | OMIM | Oct 03, 2016 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at