3-46709133-G-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_147196.3(TMIE):c.219G>C(p.Thr73=) 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. T73T) has been classified as Likely benign.
Frequency
Consequence
NM_147196.3 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 |
---|---|---|---|---|---|---|---|
TMIE | NM_147196.3 | c.219G>C | p.Thr73= | synonymous_variant | 3/4 | ENST00000643606.3 | |
TMIE | NM_001370524.1 | c.60G>C | p.Thr20= | synonymous_variant | 3/4 | ||
TMIE | NM_001370525.1 | c.60G>C | p.Thr20= | synonymous_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMIE | ENST00000643606.3 | c.219G>C | p.Thr73= | synonymous_variant | 3/4 | NM_147196.3 | P1 | ||
TMIE | ENST00000644830.1 | c.60G>C | p.Thr20= | synonymous_variant | 3/4 | ||||
TMIE | ENST00000651652.1 | c.117G>C | p.Thr39= | synonymous_variant | 2/2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249232Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135266
GnomAD4 exome Cov.: 34
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at