NM_017549.5:c.362C>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017549.5(EPDR1):āc.362C>Gā(p.Pro121Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000743 in 1,614,040 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. P121L) has been classified as Uncertain significance.
Frequency
Consequence
NM_017549.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EPDR1 | NM_017549.5 | c.362C>G | p.Pro121Arg | missense_variant | Exon 2 of 3 | ENST00000199448.9 | NP_060019.2 | |
EPDR1 | NM_001242948.2 | c.179C>G | p.Pro60Arg | missense_variant | Exon 2 of 3 | NP_001229877.1 | ||
EPDR1 | NM_001242946.2 | c.270-1268C>G | intron_variant | Intron 1 of 1 | NP_001229875.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EPDR1 | ENST00000199448.9 | c.362C>G | p.Pro121Arg | missense_variant | Exon 2 of 3 | 1 | NM_017549.5 | ENSP00000199448.4 | ||
ENSG00000290149 | ENST00000476620.1 | c.56C>G | p.Pro19Arg | missense_variant | Exon 3 of 4 | 4 | ENSP00000425858.1 |
Frequencies
GnomAD3 genomes AF: 0.000204 AC: 31AN: 152042Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000203 AC: 51AN: 251388Hom.: 0 AF XY: 0.000169 AC XY: 23AN XY: 135844
GnomAD4 exome AF: 0.0000609 AC: 89AN: 1461880Hom.: 0 Cov.: 30 AF XY: 0.0000591 AC XY: 43AN XY: 727242
GnomAD4 genome AF: 0.000204 AC: 31AN: 152160Hom.: 0 Cov.: 32 AF XY: 0.000309 AC XY: 23AN XY: 74384
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at