10-116860844-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001242699.2(ENO4):c.685G>C(p.Glu229Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000359 in 1,394,294 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_001242699.2 missense
Scores
Clinical Significance
Conservation
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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 |
---|---|---|---|---|---|---|---|---|---|---|
ENO4 | ENST00000341276.11 | c.685G>C | p.Glu229Gln | missense_variant | Exon 5 of 14 | 5 | NM_001242699.2 | ENSP00000345555.6 | ||
ENO4 | ENST00000409522.5 | c.166-7806G>C | intron_variant | Intron 1 of 6 | 1 | ENSP00000387194.1 | ||||
ENO4 | ENST00000622726.4 | c.688G>C | p.Glu230Gln | missense_variant | Exon 6 of 16 | 5 | ||||
ENO4 | ENST00000369207.3 | c.154G>C | p.Glu52Gln | missense_variant | Exon 2 of 11 | 5 | ENSP00000358208.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000359 AC: 5AN: 1394294Hom.: 0 Cov.: 30 AF XY: 0.00000436 AC XY: 3AN XY: 687430
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.685G>C (p.E229Q) alteration is located in exon 5 (coding exon 5) of the ENO4 gene. This alteration results from a G to C substitution at nucleotide position 685, causing the glutamic acid (E) at amino acid position 229 to be replaced by a glutamine (Q). 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