rs748272071
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_022051.3(EGLN1):āc.470A>Gā(p.Gln157Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000272 in 1,585,554 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. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q157H) has been classified as Benign.
Frequency
Consequence
NM_022051.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EGLN1 | NM_022051.3 | c.470A>G | p.Gln157Arg | missense_variant | 1/5 | ENST00000366641.4 | |
EGLN1 | NM_001377260.1 | c.470A>G | p.Gln157Arg | missense_variant | 1/4 | ||
EGLN1 | NM_001377261.1 | c.470A>G | p.Gln157Arg | missense_variant | 1/4 | ||
EGLN1 | XM_024447734.2 | c.470A>G | p.Gln157Arg | missense_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EGLN1 | ENST00000366641.4 | c.470A>G | p.Gln157Arg | missense_variant | 1/5 | 1 | NM_022051.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000395 AC: 60AN: 152030Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000413 AC: 87AN: 210422Hom.: 0 AF XY: 0.000377 AC XY: 44AN XY: 116626
GnomAD4 exome AF: 0.000259 AC: 371AN: 1433524Hom.: 0 Cov.: 31 AF XY: 0.000245 AC XY: 174AN XY: 709142
GnomAD4 genome AF: 0.000395 AC: 60AN: 152030Hom.: 0 Cov.: 32 AF XY: 0.000593 AC XY: 44AN XY: 74260
ClinVar
Submissions by phenotype
not specified Uncertain:1Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 21, 2022 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Uncertain significance, criteria provided, single submitter | clinical testing | Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital | Aug 15, 2023 | - - |
Erythrocytosis, familial, 3 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Nov 09, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at