chr14-103338408-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001969.5(EIF5):c.521C>T(p.Ser174Phe) variant causes a missense change. The variant allele was found at a frequency of 0.00000249 in 1,606,900 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.521C>T | p.Ser174Phe | missense_variant | Exon 7 of 12 | ENST00000216554.8 | NP_001960.2 | |
EIF5 | NM_183004.5 | c.521C>T | p.Ser174Phe | missense_variant | Exon 6 of 11 | NP_892116.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152058Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000433 AC: 1AN: 231196Hom.: 0 AF XY: 0.00000796 AC XY: 1AN XY: 125608
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1454842Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 723404
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152058Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74300
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.521C>T (p.S174F) alteration is located in exon 7 (coding exon 5) of the EIF5 gene. This alteration results from a C to T substitution at nucleotide position 521, causing the serine (S) at amino acid position 174 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