11-90039911-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.808C>T(p.Leu270Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/21 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.808C>T | p.Leu270Phe | missense_variant | Exon 7 of 8 | ENST00000448984.1 | NP_001182163.1 | |
TRIM49C | XM_017018126.2 | c.577C>T | p.Leu193Phe | missense_variant | Exon 4 of 5 | XP_016873615.1 | ||
TRIM49C | XM_024448656.2 | c.738+1932C>T | intron_variant | Intron 3 of 5 | XP_024304424.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 15
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 8.69e-7 AC: 1AN: 1150320Hom.: 0 Cov.: 19 AF XY: 0.00000175 AC XY: 1AN XY: 572742
GnomAD4 genome Cov.: 15
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.808C>T (p.L270F) alteration is located in exon 7 (coding exon 5) of the TRIM49C gene. This alteration results from a C to T substitution at nucleotide position 808, causing the leucine (L) at amino acid position 270 to be replaced by a phenylalanine (F). 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