1-231421530-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022051.3(EGLN1):c.359C>A(p.Pro120Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000659 in 151,672 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P120L) has been classified as Likely benign.
Frequency
Consequence
NM_022051.3 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 |
---|---|---|---|---|---|---|---|
EGLN1 | NM_022051.3 | c.359C>A | p.Pro120Gln | missense_variant | 1/5 | ENST00000366641.4 | |
EGLN1 | NM_001377260.1 | c.359C>A | p.Pro120Gln | missense_variant | 1/4 | ||
EGLN1 | NM_001377261.1 | c.359C>A | p.Pro120Gln | missense_variant | 1/4 | ||
EGLN1 | XM_024447734.2 | c.359C>A | p.Pro120Gln | missense_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EGLN1 | ENST00000366641.4 | c.359C>A | p.Pro120Gln | missense_variant | 1/5 | 1 | NM_022051.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151672Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1148600Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 549254
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151672Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74072
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at