4-100188123-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_145244.4(DDIT4L):c.136G>A(p.Glu46Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000254 in 1,612,880 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E46G) has been classified as Uncertain significance.
Frequency
Consequence
NM_145244.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DDIT4L | ENST00000273990.6 | c.136G>A | p.Glu46Lys | missense_variant | Exon 3 of 3 | 1 | NM_145244.4 | ENSP00000354830.2 | ||
DDIT4L | ENST00000502763.1 | c.136G>A | p.Glu46Lys | missense_variant | Exon 2 of 2 | 2 | ENSP00000427301.1 | |||
DDIT4L | ENST00000513992.1 | c.136G>A | p.Glu46Lys | missense_variant | Exon 3 of 3 | 4 | ENSP00000427040.1 | |||
H2AZ1-DT | ENST00000515026.1 | n.730-6942C>T | intron_variant | Intron 5 of 5 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152110Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000282 AC: 7AN: 248326Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 134862
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1460770Hom.: 0 Cov.: 32 AF XY: 0.0000303 AC XY: 22AN XY: 726704
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152110Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74304
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.136G>A (p.E46K) alteration is located in exon 3 (coding exon 2) of the DDIT4L gene. This alteration results from a G to A substitution at nucleotide position 136, causing the glutamic acid (E) at amino acid position 46 to be replaced by a lysine (K). 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