17-18734952-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The ENST00000571708.5(TRIM16L):n.1165C>A variant causes a non coding transcript exon change. The variant allele was found at a frequency of 0.0000155 in 1,613,288 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.1245C>A | non_coding_transcript_exon_variant | Exon 10 of 10 | ||||
TRIM16L | NR_172634.1 | n.1094C>A | non_coding_transcript_exon_variant | Exon 9 of 9 | ||||
TRIM16L | NR_172635.1 | n.996C>A | 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.1165C>A | non_coding_transcript_exon_variant | Exon 10 of 10 | 1 | |||||
TRIM16L | ENST00000414850.6 | n.524C>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 | |||||
TRIM16L | ENST00000449552.6 | n.2023C>A | non_coding_transcript_exon_variant | Exon 7 of 7 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000855 AC: 13AN: 152130Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250050Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135134
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461158Hom.: 0 Cov.: 33 AF XY: 0.0000110 AC XY: 8AN XY: 726832
GnomAD4 genome AF: 0.0000855 AC: 13AN: 152130Hom.: 0 Cov.: 31 AF XY: 0.0000673 AC XY: 5AN XY: 74302
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.539C>A (p.T180N) alteration is located in exon 5 (coding exon 4) of the TRIM16L gene. This alteration results from a C to A substitution at nucleotide position 539, causing the threonine (T) at amino acid position 180 to be replaced by an asparagine (N). 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