15-44554610-C-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_003758.4(EIF3J):c.352C>A(p.Leu118Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000868 in 1,612,694 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003758.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EIF3J | NM_003758.4 | c.352C>A | p.Leu118Met | missense_variant | Exon 5 of 8 | ENST00000261868.10 | NP_003749.2 | |
EIF3J | NM_001284336.2 | c.205C>A | p.Leu69Met | missense_variant | Exon 3 of 6 | NP_001271265.1 | ||
EIF3J | NM_001284335.2 | c.352C>A | p.Leu118Met | missense_variant | Exon 5 of 7 | NP_001271264.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152112Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000799 AC: 2AN: 250316Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135282
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460582Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 726532
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152112Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.352C>A (p.L118M) alteration is located in exon 5 (coding exon 5) of the EIF3J gene. This alteration results from a C to A substitution at nucleotide position 352, causing the leucine (L) at amino acid position 118 to be replaced by a methionine (M). 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