chr7-28956201-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014817.4(TRIL):āc.1846G>Cā(p.Gly616Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000103 in 1,565,584 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 8/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014817.4 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 |
---|---|---|---|---|---|---|---|---|
TRIL | NM_014817.4 | c.1846G>C | p.Gly616Arg | missense_variant | 1/1 | ENST00000539664.3 | NP_055632.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIL | ENST00000539664.3 | c.1846G>C | p.Gly616Arg | missense_variant | 1/1 | NM_014817.4 | ENSP00000479256 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152254Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000553 AC: 9AN: 162854Hom.: 0 AF XY: 0.0000781 AC XY: 7AN XY: 89652
GnomAD4 exome AF: 0.000108 AC: 152AN: 1413330Hom.: 0 Cov.: 32 AF XY: 0.000104 AC XY: 73AN XY: 698800
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152254Hom.: 0 Cov.: 34 AF XY: 0.0000403 AC XY: 3AN XY: 74386
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 05, 2023 | The c.1846G>C (p.G616R) alteration is located in exon 1 (coding exon 1) of the TRIL gene. This alteration results from a G to C substitution at nucleotide position 1846, causing the glycine (G) at amino acid position 616 to be replaced by an arginine (R). 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