rs4680
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000754.4(COMT):c.472G>A(p.Val158Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.49 in 1,610,688 control chromosomes in the GnomAD database, including 197,380 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000754.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COMT | NM_000754.4 | c.472G>A | p.Val158Met | missense_variant | Exon 4 of 6 | ENST00000361682.11 | NP_000745.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.440 AC: 66834AN: 151946Hom.: 15493 Cov.: 33
GnomAD3 exomes AF: 0.461 AC: 114049AN: 247346Hom.: 27151 AF XY: 0.465 AC XY: 62409AN XY: 134140
GnomAD4 exome AF: 0.496 AC: 723171AN: 1458624Hom.: 181891 Cov.: 65 AF XY: 0.495 AC XY: 359427AN XY: 725604
GnomAD4 genome AF: 0.440 AC: 66839AN: 152064Hom.: 15489 Cov.: 33 AF XY: 0.440 AC XY: 32667AN XY: 74322
ClinVar
Submissions by phenotype
not specified Benign:5
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Schizophrenia Benign:1
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not provided Benign:1
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CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM Benign:1
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Tramadol response Other:1
- T:M1 = postmortem ratio or tramadol to O-desmethyltramadol; t-MP = model-based clustered metabolizer phenotype inferred from T:M1
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at