rs121918045
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP5
The ENST00000268124.11(POLG):āc.8G>Cā(p.Arg3Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000723 in 1,382,966 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. R3R) has been classified as Likely benign.
Frequency
Consequence
ENST00000268124.11 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POLG | NM_002693.3 | c.8G>C | p.Arg3Pro | missense_variant | 2/23 | ENST00000268124.11 | NP_002684.1 | |
POLGARF | NM_001406557.1 | c.63G>C | p.Pro21= | synonymous_variant | 2/23 | NP_001393486.1 | ||
POLG | NM_001126131.2 | c.8G>C | p.Arg3Pro | missense_variant | 2/23 | NP_001119603.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POLG | ENST00000268124.11 | c.8G>C | p.Arg3Pro | missense_variant | 2/23 | 1 | NM_002693.3 | ENSP00000268124 | P1 | |
POLGARF | ENST00000706918.1 | c.63G>C | p.Pro21= | synonymous_variant | 1/2 | ENSP00000516626 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 7.23e-7 AC: 1AN: 1382966Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 682508
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jul 01, 2001 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at