10-116860859-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001242699.2(ENO4):c.700G>A(p.Gly234Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000716 in 1,396,940 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENO4 | ENST00000341276.11 | c.700G>A | p.Gly234Ser | missense_variant | Exon 5 of 14 | 5 | NM_001242699.2 | ENSP00000345555.6 | ||
ENO4 | ENST00000409522.5 | c.166-7791G>A | intron_variant | Intron 1 of 6 | 1 | ENSP00000387194.1 | ||||
ENO4 | ENST00000622726.4 | c.703G>A | p.Gly235Ser | missense_variant | Exon 6 of 16 | 5 | ||||
ENO4 | ENST00000369207.3 | c.169G>A | p.Gly57Ser | missense_variant | Exon 2 of 11 | 5 | ENSP00000358208.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.16e-7 AC: 1AN: 1396940Hom.: 0 Cov.: 30 AF XY: 0.00000145 AC XY: 1AN XY: 688892
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.700G>A (p.G234S) alteration is located in exon 5 (coding exon 5) of the ENO4 gene. This alteration results from a G to A substitution at nucleotide position 700, causing the glycine (G) at amino acid position 234 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