rs17366743
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_004797.4(ADIPOQ):āc.331T>Cā(p.Tyr111His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0277 in 1,614,206 control chromosomes in the GnomAD database, including 727 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_004797.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADIPOQ | NM_004797.4 | c.331T>C | p.Tyr111His | missense_variant | 3/3 | ENST00000320741.7 | |
ADIPOQ-AS1 | NR_046662.2 | n.1953A>G | non_coding_transcript_exon_variant | 2/4 | |||
ADIPOQ | NM_001177800.2 | c.331T>C | p.Tyr111His | missense_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADIPOQ | ENST00000320741.7 | c.331T>C | p.Tyr111His | missense_variant | 3/3 | 1 | NM_004797.4 | P1 | |
ADIPOQ | ENST00000444204.2 | c.331T>C | p.Tyr111His | missense_variant | 4/4 | 1 | P1 | ||
ADIPOQ-AS1 | ENST00000422718.1 | n.1824A>G | non_coding_transcript_exon_variant | 1/3 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0205 AC: 3118AN: 152210Hom.: 49 Cov.: 31
GnomAD3 exomes AF: 0.0219 AC: 5516AN: 251458Hom.: 87 AF XY: 0.0227 AC XY: 3086AN XY: 135896
GnomAD4 exome AF: 0.0285 AC: 41648AN: 1461878Hom.: 677 Cov.: 31 AF XY: 0.0280 AC XY: 20361AN XY: 727236
GnomAD4 genome ? AF: 0.0205 AC: 3118AN: 152328Hom.: 50 Cov.: 31 AF XY: 0.0204 AC XY: 1518AN XY: 74492
ClinVar
Submissions by phenotype
ADIPOQ-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Sep 24, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at