3-48466268-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_033629.6(TREX1):c.-57T>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.167 in 618,612 control chromosomes in the GnomAD database, including 9,760 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_033629.6 5_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TREX1 | NM_033629.6 | c.-57T>C | 5_prime_UTR_variant | Exon 1 of 2 | ENST00000625293.3 | NP_338599.1 | ||
ATRIP | NM_130384.3 | c.*714T>C | 3_prime_UTR_variant | Exon 13 of 13 | ENST00000320211.10 | NP_569055.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.140 AC: 21215AN: 151350Hom.: 1895 Cov.: 33
GnomAD4 exome AF: 0.176 AC: 82238AN: 467144Hom.: 7866 Cov.: 5 AF XY: 0.178 AC XY: 43666AN XY: 245802
GnomAD4 genome AF: 0.140 AC: 21214AN: 151468Hom.: 1894 Cov.: 33 AF XY: 0.139 AC XY: 10286AN XY: 73984
ClinVar
Submissions by phenotype
not provided Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
- -
Aicardi Goutieres syndrome Benign:1
- -
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at