chr11-5696479-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_006074.5(TRIM22):c.247G>A(p.Glu83Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000632 in 1,614,258 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_006074.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIM22 | NM_006074.5 | c.247G>A | p.Glu83Lys | missense_variant | 2/8 | ENST00000379965.8 | |
TRIM22 | NM_001199573.2 | c.247G>A | p.Glu83Lys | missense_variant | 2/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM22 | ENST00000379965.8 | c.247G>A | p.Glu83Lys | missense_variant | 2/8 | 1 | NM_006074.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00172 AC: 262AN: 152248Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.000859 AC: 215AN: 250272Hom.: 0 AF XY: 0.000906 AC XY: 123AN XY: 135730
GnomAD4 exome AF: 0.000519 AC: 759AN: 1461892Hom.: 0 Cov.: 29 AF XY: 0.000540 AC XY: 393AN XY: 727246
GnomAD4 genome AF: 0.00172 AC: 262AN: 152366Hom.: 2 Cov.: 33 AF XY: 0.00197 AC XY: 147AN XY: 74506
ClinVar
Submissions by phenotype
not provided Uncertain:2
Uncertain significance, no assertion criteria provided | clinical testing | Genome Diagnostics Laboratory, Amsterdam University Medical Center | - | - - |
Uncertain significance, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at