11-90035575-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001195234.1(TRIM49C):c.364C>T(p.Arg122Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. 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 (★).
Frequency
Consequence
NM_001195234.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM49C | NM_001195234.1 | c.364C>T | p.Arg122Trp | missense_variant | Exon 3 of 8 | ENST00000448984.1 | NP_001182163.1 | |
TRIM49C | XM_024448656.2 | c.364C>T | p.Arg122Trp | missense_variant | Exon 1 of 6 | XP_024304424.1 | ||
TRIM49C | XM_017018126.2 | c.364C>T | p.Arg122Trp | missense_variant | Exon 1 of 5 | XP_016873615.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000275 AC: 3AN: 109268Hom.: 0 Cov.: 15
GnomAD3 exomes AF: 0.0000219 AC: 4AN: 182720Hom.: 0 AF XY: 0.00000992 AC XY: 1AN XY: 100794
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000164 AC: 22AN: 1338750Hom.: 1 Cov.: 31 AF XY: 0.0000195 AC XY: 13AN XY: 666760
GnomAD4 genome AF: 0.0000275 AC: 3AN: 109268Hom.: 0 Cov.: 15 AF XY: 0.00 AC XY: 0AN XY: 51490
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.364C>T (p.R122W) alteration is located in exon 3 (coding exon 1) of the TRIM49C gene. This alteration results from a C to T substitution at nucleotide position 364, causing the arginine (R) at amino acid position 122 to be replaced by a tryptophan (W). 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