NM_015999.6:c.970C>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PP3_StrongBS2
The NM_015999.6(ADIPOR1):c.970C>T(p.Arg324Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000744 in 1,612,894 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015999.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADIPOR1 | ENST00000340990.10 | c.970C>T | p.Arg324Cys | missense_variant | Exon 7 of 8 | 1 | NM_015999.6 | ENSP00000341785.5 | ||
ADIPOR1 | ENST00000367254 | c.*185C>T | 3_prime_UTR_variant | Exon 6 of 7 | 1 | ENSP00000356223.3 | ||||
ADIPOR1 | ENST00000495562.5 | n.1204C>T | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152112Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249630Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 134974
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1460782Hom.: 1 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 726634
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152112Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74306
ClinVar
Submissions by phenotype
not provided Uncertain:1
This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 324 of the ADIPOR1 protein (p.Arg324Cys). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ADIPOR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1063189). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at