11-89710647-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001146162.1(TRIM77):c.349C>A(p.Gln117Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000206 in 1,550,832 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/15 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001146162.1 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIM77 | NM_001146162.1 | c.349C>A | p.Gln117Lys | missense_variant | 1/6 | ENST00000398290.7 | |
TRIM77 | NM_001271942.1 | c.349C>A | p.Gln117Lys | missense_variant | 1/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM77 | ENST00000398290.7 | c.349C>A | p.Gln117Lys | missense_variant | 1/6 | 5 | NM_001146162.1 | P1 | |
TRIM77 | ENST00000534392.4 | upstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000385 AC: 6AN: 155794Hom.: 0 AF XY: 0.0000606 AC XY: 5AN XY: 82568
GnomAD4 exome AF: 0.0000207 AC: 29AN: 1398686Hom.: 0 Cov.: 33 AF XY: 0.0000319 AC XY: 22AN XY: 689874
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152146Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74320
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at