rs761080016
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002693.3(POLG):c.119_127del(p.Arg40_Arg42del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R40R) has been classified as Likely benign.
Frequency
Consequence
NM_002693.3 inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POLG | NM_002693.3 | c.119_127del | p.Arg40_Arg42del | inframe_deletion | 2/23 | ENST00000268124.11 | |
POLGARF | NM_001406557.1 | c.174_182del | p.Ala69_Ala71del | inframe_deletion | 2/23 | ||
POLG | NM_001126131.2 | c.119_127del | p.Arg40_Arg42del | inframe_deletion | 2/23 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLG | ENST00000268124.11 | c.119_127del | p.Arg40_Arg42del | inframe_deletion | 2/23 | 1 | NM_002693.3 | P1 | |
POLGARF | ENST00000706918.1 | c.174_182del | p.Ala69_Ala71del | inframe_deletion | 1/2 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000119 AC: 17AN: 1429754Hom.: 0 AF XY: 0.0000127 AC XY: 9AN XY: 709888
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.