3-186854300-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004797.4(ADIPOQ):āc.331T>Gā(p.Tyr111Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,892 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Y111H) has been classified as Likely benign.
Frequency
Consequence
NM_004797.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADIPOQ | NM_004797.4 | c.331T>G | p.Tyr111Asp | missense_variant | Exon 3 of 3 | ENST00000320741.7 | NP_004788.1 | |
ADIPOQ | NM_001177800.2 | c.331T>G | p.Tyr111Asp | missense_variant | Exon 4 of 4 | NP_001171271.1 | ||
ADIPOQ-AS1 | NR_046662.2 | n.1953A>C | non_coding_transcript_exon_variant | Exon 2 of 4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADIPOQ | ENST00000320741.7 | c.331T>G | p.Tyr111Asp | missense_variant | Exon 3 of 3 | 1 | NM_004797.4 | ENSP00000320709.2 | ||
ADIPOQ | ENST00000444204.2 | c.331T>G | p.Tyr111Asp | missense_variant | Exon 4 of 4 | 1 | ENSP00000389814.2 | |||
ADIPOQ-AS1 | ENST00000422718.1 | n.1824A>C | non_coding_transcript_exon_variant | Exon 1 of 3 | 5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461892Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727248
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.