chr14-103337212-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001969.5(EIF5):c.424C>T(p.Leu142Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000993 in 1,611,772 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001969.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EIF5 | NM_001969.5 | c.424C>T | p.Leu142Phe | missense_variant | Exon 6 of 12 | ENST00000216554.8 | NP_001960.2 | |
EIF5 | NM_183004.5 | c.424C>T | p.Leu142Phe | missense_variant | Exon 5 of 11 | NP_892116.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152208Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1459564Hom.: 0 Cov.: 30 AF XY: 0.00000964 AC XY: 7AN XY: 726062
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152208Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.424C>T (p.L142F) alteration is located in exon 6 (coding exon 4) of the EIF5 gene. This alteration results from a C to T substitution at nucleotide position 424, causing the leucine (L) at amino acid position 142 to be replaced by a phenylalanine (F). 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