11-2165105-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000360.4(TH):c.1334+127T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.489 in 1,423,550 control chromosomes in the GnomAD database, including 174,285 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000360.4 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TH | NM_000360.4 | c.1334+127T>C | intron_variant | Intron 12 of 12 | ENST00000352909.8 | NP_000351.2 | ||
TH | NM_199292.3 | c.1427+127T>C | intron_variant | Intron 13 of 13 | NP_954986.2 | |||
TH | NM_199293.3 | c.1415+127T>C | intron_variant | Intron 13 of 13 | NP_954987.2 | |||
TH | XM_011520335.3 | c.1346+127T>C | intron_variant | Intron 12 of 12 | XP_011518637.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TH | ENST00000352909.8 | c.1334+127T>C | intron_variant | Intron 12 of 12 | 1 | NM_000360.4 | ENSP00000325951.4 | |||
TH | ENST00000381178.5 | c.1427+127T>C | intron_variant | Intron 13 of 13 | 1 | ENSP00000370571.1 | ||||
TH | ENST00000381175.5 | c.1415+127T>C | intron_variant | Intron 13 of 13 | 1 | ENSP00000370567.1 | ||||
TH | ENST00000333684.9 | c.1052+127T>C | intron_variant | Intron 10 of 10 | 1 | ENSP00000328814.6 |
Frequencies
GnomAD3 genomes AF: 0.431 AC: 65450AN: 151896Hom.: 15314 Cov.: 33
GnomAD4 exome AF: 0.496 AC: 630422AN: 1271536Hom.: 158957 AF XY: 0.496 AC XY: 316625AN XY: 638710
GnomAD4 genome AF: 0.431 AC: 65494AN: 152014Hom.: 15328 Cov.: 33 AF XY: 0.435 AC XY: 32321AN XY: 74300
ClinVar
Submissions by phenotype
not provided Benign:2
This variant is associated with the following publications: (PMID: 18208403) -
- -
Autosomal recessive DOPA responsive dystonia Benign:2
- -
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at