1-8865344-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001428.5(ENO1):c.806G>T(p.Arg269Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001428.5 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 |
---|---|---|---|---|---|---|---|---|
ENO1 | NM_001428.5 | c.806G>T | p.Arg269Met | missense_variant | Exon 8 of 12 | ENST00000234590.10 | NP_001419.1 | |
ENO1 | NM_001353346.3 | c.806G>T | p.Arg269Met | missense_variant | Exon 8 of 12 | NP_001340275.1 | ||
ENO1 | NM_001201483.4 | c.527G>T | p.Arg176Met | missense_variant | Exon 7 of 11 | NP_001188412.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.806G>T (p.R269M) alteration is located in exon 8 (coding exon 7) of the ENO1 gene. This alteration results from a G to T substitution at nucleotide position 806, causing the arginine (R) at amino acid position 269 to be replaced by a methionine (M). 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
Publications
No publications associated with this variant yet.