chr10-116871222-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001242699.2(ENO4):c.1145A>G(p.Asn382Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000215 in 1,398,230 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/18 in silico tools predict 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
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ENO4 | NM_001242699.2 | c.1145A>G | p.Asn382Ser | missense_variant | 9/14 | ENST00000341276.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENO4 | ENST00000341276.11 | c.1145A>G | p.Asn382Ser | missense_variant | 9/14 | 5 | NM_001242699.2 | P1 | |
ENO4 | ENST00000409522.5 | c.320A>G | p.Asn107Ser | missense_variant | 3/7 | 1 | |||
ENO4 | ENST00000369207.3 | c.617A>G | p.Asn206Ser | missense_variant | 6/11 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000215 AC: 3AN: 1398230Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 689640
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 03, 2024 | The c.1145A>G (p.N382S) alteration is located in exon 9 (coding exon 9) of the ENO4 gene. This alteration results from a A to G substitution at nucleotide position 1145, causing the asparagine (N) at amino acid position 382 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