1-39883361-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000316891.10(TRIT1):āc.131G>Cā(p.Gly44Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,460,470 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
ENST00000316891.10 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIT1 | NM_017646.6 | c.131G>C | p.Gly44Ala | missense_variant | 1/11 | ENST00000316891.10 | NP_060116.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIT1 | ENST00000316891.10 | c.131G>C | p.Gly44Ala | missense_variant | 1/11 | 1 | NM_017646.6 | ENSP00000321810.5 | ||
TRIT1 | ENST00000372818.5 | c.131G>C | p.Gly44Ala | missense_variant | 1/10 | 1 | ENSP00000361905.1 | |||
TRIT1 | ENST00000462797.5 | n.131G>C | non_coding_transcript_exon_variant | 1/10 | 5 | ENSP00000473773.1 | ||||
TRIT1 | ENST00000486825.6 | n.113G>C | non_coding_transcript_exon_variant | 1/8 | 5 | ENSP00000474151.1 | ||||
TRIT1 | ENST00000489945.5 | n.131G>C | non_coding_transcript_exon_variant | 1/7 | 5 | ENSP00000473745.1 | ||||
TRIT1 | ENST00000492612.6 | n.119G>C | non_coding_transcript_exon_variant | 1/9 | 5 | ENSP00000473708.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460470Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726518
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Jun 18, 2019 | Not observed [at a significant frequency] in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.