NM_001969.5:c.571C>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001969.5(EIF5):c.571C>T(p.Pro191Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000134 in 1,571,966 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_001969.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EIF5 | NM_001969.5 | c.571C>T | p.Pro191Ser | missense_variant | Exon 7 of 12 | ENST00000216554.8 | NP_001960.2 | |
EIF5 | NM_183004.5 | c.571C>T | p.Pro191Ser | missense_variant | Exon 6 of 11 | NP_892116.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152214Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000224 AC: 4AN: 178912Hom.: 0 AF XY: 0.0000104 AC XY: 1AN XY: 96046
GnomAD4 exome AF: 0.0000106 AC: 15AN: 1419752Hom.: 0 Cov.: 32 AF XY: 0.00000853 AC XY: 6AN XY: 703060
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152214Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.571C>T (p.P191S) 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 571, causing the proline (P) at amino acid position 191 to be replaced by a serine (S). 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