chr3-46705819-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_147196.3(TMIE):c.123G>T(p.Pro41=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,746 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P41P) has been classified as Likely benign.
Frequency
Consequence
NM_147196.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.123G>T | p.Pro41= | synonymous_variant | 2/4 | ENST00000643606.3 | |
TMIE | NM_001370524.1 | c.-37G>T | 5_prime_UTR_variant | 2/4 | |||
TMIE | NM_001370525.1 | c.-37G>T | 5_prime_UTR_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMIE | ENST00000643606.3 | c.123G>T | p.Pro41= | synonymous_variant | 2/4 | NM_147196.3 | P1 | ||
TMIE | ENST00000651652.1 | c.21G>T | p.Pro7= | synonymous_variant | 1/2 | ||||
TMIE | ENST00000644830.1 | c.-37G>T | 5_prime_UTR_variant | 2/4 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249478Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135388
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461746Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727182
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at