chr4-188146877-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_178556.5(TRIML1):c.912T>A(p.Asp304Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000003 in 1,333,414 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178556.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIML1 | NM_178556.5 | c.912T>A | p.Asp304Glu | missense_variant | 6/6 | ENST00000332517.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIML1 | ENST00000332517.4 | c.912T>A | p.Asp304Glu | missense_variant | 6/6 | 1 | NM_178556.5 | P1 | |
TRIML1 | ENST00000507581.5 | n.372T>A | non_coding_transcript_exon_variant | 3/3 | 1 | ||||
TRIML1 | ENST00000512233.1 | n.262T>A | non_coding_transcript_exon_variant | 4/4 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000300 AC: 4AN: 1333414Hom.: 0 Cov.: 31 AF XY: 0.00000154 AC XY: 1AN XY: 650514
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 26, 2023 | The c.912T>A (p.D304E) alteration is located in exon 6 (coding exon 6) of the TRIML1 gene. This alteration results from a T to A substitution at nucleotide position 912, causing the aspartic acid (D) at amino acid position 304 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.