17-18731178-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000571708.5(TRIM16L):n.936C>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 0.0000384 in 1,613,478 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM16L | NR_172633.1 | n.1016C>T | non_coding_transcript_exon_variant | Exon 8 of 10 | ||||
TRIM16L | NR_172634.1 | n.865C>T | non_coding_transcript_exon_variant | Exon 7 of 9 | ||||
TRIM16L | NR_172635.1 | n.767C>T | non_coding_transcript_exon_variant | Exon 6 of 8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM16L | ENST00000571708.5 | n.936C>T | non_coding_transcript_exon_variant | Exon 8 of 10 | 1 | |||||
TRIM16L | ENST00000449552.6 | n.1794C>T | non_coding_transcript_exon_variant | Exon 5 of 7 | 2 | |||||
TRIM16L | ENST00000571542.5 | n.620C>T | non_coding_transcript_exon_variant | Exon 4 of 6 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000280 AC: 7AN: 250054Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135198
GnomAD4 exome AF: 0.0000417 AC: 61AN: 1461316Hom.: 0 Cov.: 30 AF XY: 0.0000413 AC XY: 30AN XY: 726984
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.310C>T (p.H104Y) alteration is located in exon 3 (coding exon 2) of the TRIM16L gene. This alteration results from a C to T substitution at nucleotide position 310, causing the histidine (H) at amino acid position 104 to be replaced by a tyrosine (Y). 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