rs528105731
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_000360.4(TH):c.414A>G(p.Arg138=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,459,552 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. R138R) has been classified as Likely benign.
Frequency
Consequence
NM_000360.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TH | NM_000360.4 | c.414A>G | p.Arg138= | synonymous_variant | 3/13 | ENST00000352909.8 | |
TH | NM_199292.3 | c.507A>G | p.Arg169= | synonymous_variant | 4/14 | ||
TH | NM_199293.3 | c.495A>G | p.Arg165= | synonymous_variant | 4/14 | ||
TH | XM_011520335.3 | c.426A>G | p.Arg142= | synonymous_variant | 3/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TH | ENST00000352909.8 | c.414A>G | p.Arg138= | synonymous_variant | 3/13 | 1 | NM_000360.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000413 AC: 1AN: 241998Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132646
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459552Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 726104
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Autosomal recessive DOPA responsive dystonia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Mar 19, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at