rs185847354
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_004797.4(ADIPOQ):āc.491T>Cā(p.Ile164Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000155 in 1,614,226 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 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 -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADIPOQ | NM_004797.4 | c.491T>C | p.Ile164Thr | missense_variant | 3/3 | ENST00000320741.7 | |
ADIPOQ-AS1 | NR_046662.2 | n.1793A>G | non_coding_transcript_exon_variant | 2/4 | |||
ADIPOQ | NM_001177800.2 | c.491T>C | p.Ile164Thr | missense_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADIPOQ | ENST00000320741.7 | c.491T>C | p.Ile164Thr | missense_variant | 3/3 | 1 | NM_004797.4 | P1 | |
ADIPOQ | ENST00000444204.2 | c.491T>C | p.Ile164Thr | missense_variant | 4/4 | 1 | P1 | ||
ADIPOQ-AS1 | ENST00000422718.1 | n.1664A>G | non_coding_transcript_exon_variant | 1/3 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000112 AC: 17AN: 152218Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000314 AC: 79AN: 251478Hom.: 0 AF XY: 0.000228 AC XY: 31AN XY: 135908
GnomAD4 exome AF: 0.000159 AC: 233AN: 1461890Hom.: 0 Cov.: 31 AF XY: 0.000139 AC XY: 101AN XY: 727248
GnomAD4 genome ? AF: 0.000112 AC: 17AN: 152336Hom.: 0 Cov.: 31 AF XY: 0.000107 AC XY: 8AN XY: 74488
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at