11-2167911-C-G
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PP3_Strong
The NM_000360.4(TH):āc.599G>Cā(p.Arg200Pro) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,458,808 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R200H) has been classified as Uncertain significance.
Frequency
Consequence
NM_000360.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TH | NM_000360.4 | c.599G>C | p.Arg200Pro | missense_variant | 5/13 | ENST00000352909.8 | |
TH | NM_199292.3 | c.692G>C | p.Arg231Pro | missense_variant | 6/14 | ||
TH | NM_199293.3 | c.680G>C | p.Arg227Pro | missense_variant | 6/14 | ||
TH | XM_011520335.3 | c.611G>C | p.Arg204Pro | missense_variant | 5/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TH | ENST00000352909.8 | c.599G>C | p.Arg200Pro | missense_variant | 5/13 | 1 | NM_000360.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1458808Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 725554
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Autosomal recessive DOPA responsive dystonia Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Counsyl | Nov 16, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at