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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E229K) has been classified 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
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ENO4 | NM_001242699.2 | c.685G>C | p.Glu229Gln | missense_variant | 5/14 | ENST00000341276.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENO4 | ENST00000341276.11 | c.685G>C | p.Glu229Gln | missense_variant | 5/14 | 5 | NM_001242699.2 | P1 | |
ENO4 | ENST00000409522.5 | c.166-7806G>C | intron_variant | 1 | |||||
ENO4 | ENST00000369207.3 | c.157G>C | p.Glu53Gln | missense_variant | 2/11 | 5 |
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
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 06, 2021 | 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