rs28567406
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002693.3(POLG):c.128A>T(p.Gln43Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000699 in 1,429,754 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002693.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POLG | NM_002693.3 | c.128A>T | p.Gln43Leu | missense_variant | 2/23 | ENST00000268124.11 | NP_002684.1 | |
POLG | NM_001126131.2 | c.128A>T | p.Gln43Leu | missense_variant | 2/23 | NP_001119603.1 | ||
POLGARF | NM_001406557.1 | c.183A>T | p.Ala61Ala | synonymous_variant | 2/23 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POLG | ENST00000268124.11 | c.128A>T | p.Gln43Leu | missense_variant | 2/23 | 1 | NM_002693.3 | ENSP00000268124.5 | ||
POLGARF | ENST00000706918.1 | c.183A>T | p.Ala61Ala | synonymous_variant | 1/2 | ENSP00000516626.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.99e-7 AC: 1AN: 1429754Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 709888
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Jun 20, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at