chr11-2168615-C-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000360.4(TH):c.363G>T(p.Pro121=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P121P) 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 -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TH | NM_000360.4 | c.363G>T | p.Pro121= | synonymous_variant | 3/13 | ENST00000352909.8 | |
TH | NM_199292.3 | c.456G>T | p.Pro152= | synonymous_variant | 4/14 | ||
TH | NM_199293.3 | c.444G>T | p.Pro148= | synonymous_variant | 4/14 | ||
TH | XM_011520335.3 | c.375G>T | p.Pro125= | synonymous_variant | 3/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TH | ENST00000352909.8 | c.363G>T | p.Pro121= | synonymous_variant | 3/13 | 1 | NM_000360.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000414 AC: 1AN: 241448Hom.: 0 AF XY: 0.00000754 AC XY: 1AN XY: 132656
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at