4-188146822-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_178556.5(TRIML1):āc.857C>Gā(p.Thr286Arg) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000737 in 1,357,588 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 17/23 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T286K) has been classified as Uncertain significance.
Frequency
Consequence
NM_178556.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIML1 | ENST00000332517.4 | c.857C>G | p.Thr286Arg | missense_variant, splice_region_variant | Exon 6 of 6 | 1 | NM_178556.5 | ENSP00000327738.3 | ||
TRIML1 | ENST00000507581.5 | n.317C>G | splice_region_variant, non_coding_transcript_exon_variant | Exon 3 of 3 | 1 | |||||
TRIML1 | ENST00000512233.1 | n.207C>G | splice_region_variant, non_coding_transcript_exon_variant | Exon 4 of 4 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000151 AC: 2AN: 132062Hom.: 0 AF XY: 0.0000142 AC XY: 1AN XY: 70424
GnomAD4 exome AF: 0.00000664 AC: 8AN: 1205434Hom.: 0 Cov.: 30 AF XY: 0.00000345 AC XY: 2AN XY: 579396
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152154Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74318
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at