17-18734942-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The ENST00000571708.5(TRIM16L):n.1155C>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,612,862 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000571708.5 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM16L | NR_172633.1 | n.1235C>T | non_coding_transcript_exon_variant | Exon 10 of 10 | ||||
TRIM16L | NR_172634.1 | n.1084C>T | non_coding_transcript_exon_variant | Exon 9 of 9 | ||||
TRIM16L | NR_172635.1 | n.986C>T | non_coding_transcript_exon_variant | Exon 8 of 8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM16L | ENST00000571708.5 | n.1155C>T | non_coding_transcript_exon_variant | Exon 10 of 10 | 1 | |||||
TRIM16L | ENST00000414850.6 | n.514C>T | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 | |||||
TRIM16L | ENST00000449552.6 | n.2013C>T | non_coding_transcript_exon_variant | Exon 7 of 7 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152140Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249854Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 135006
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1460722Hom.: 0 Cov.: 33 AF XY: 0.00000275 AC XY: 2AN XY: 726556
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152140Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74306
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.529C>T (p.R177C) alteration is located in exon 5 (coding exon 4) of the TRIM16L gene. This alteration results from a C to T substitution at nucleotide position 529, causing the arginine (R) at amino acid position 177 to be replaced by a cysteine (C). 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