14-24259769-G-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_000359.3(TGM1):c.919C>A(p.Arg307=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,948 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. R307R) has been classified as Likely benign.
Frequency
Consequence
NM_000359.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TGM1 | NM_000359.3 | c.919C>A | p.Arg307= | synonymous_variant | 6/15 | ENST00000206765.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TGM1 | ENST00000206765.11 | c.919C>A | p.Arg307= | synonymous_variant | 6/15 | 1 | NM_000359.3 | P1 | |
TGM1 | ENST00000559136.1 | c.-9C>A | 5_prime_UTR_variant | 2/7 | 5 | ||||
TGM1 | ENST00000544573.5 | c.-28-1381C>A | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248966Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135004
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460948Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726760
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at