3-186853103-T-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004797.4(ADIPOQ):c.45T>A(p.Gly15=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,868 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. Synonymous variant affecting the same amino acid position (i.e. G15G) has been classified as Benign.
Frequency
Consequence
NM_004797.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADIPOQ | NM_004797.4 | c.45T>A | p.Gly15= | synonymous_variant | 2/3 | ENST00000320741.7 | |
ADIPOQ-AS1 | NR_046662.2 | n.2355A>T | non_coding_transcript_exon_variant | 4/4 | |||
ADIPOQ | NM_001177800.2 | c.45T>A | p.Gly15= | synonymous_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADIPOQ | ENST00000320741.7 | c.45T>A | p.Gly15= | synonymous_variant | 2/3 | 1 | NM_004797.4 | P1 | |
ADIPOQ | ENST00000444204.2 | c.45T>A | p.Gly15= | synonymous_variant | 3/4 | 1 | P1 | ||
ADIPOQ-AS1 | ENST00000422718.1 | n.2226A>T | non_coding_transcript_exon_variant | 3/3 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461868Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727238
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at