1-161766427-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_007348.4(ATF6):c.67C>T(p.Leu23Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000254 in 1,613,258 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007348.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000799 AC: 2AN: 250428Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135390
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1460966Hom.: 0 Cov.: 31 AF XY: 0.0000261 AC XY: 19AN XY: 726784
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152292Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74490
ClinVar
Submissions by phenotype
not provided Uncertain:1
This sequence change affects codon 23 of the ATF6 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATF6 protein. This variant is present in population databases (rs149825732, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ATF6-related conditions. ClinVar contains an entry for this variant (Variation ID: 971245). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at