rs758130
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_002693.3(POLG):c.660-290T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.366 in 152,024 control chromosomes in the GnomAD database, including 10,490 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_002693.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POLG | NM_002693.3 | c.660-290T>C | intron_variant | Intron 2 of 22 | ENST00000268124.11 | NP_002684.1 | ||
POLG | NM_001126131.2 | c.660-290T>C | intron_variant | Intron 2 of 22 | NP_001119603.1 | |||
POLGARF | NM_001430120.1 | c.715-290T>C | intron_variant | Intron 1 of 1 | NP_001417049.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POLG | ENST00000268124.11 | c.660-290T>C | intron_variant | Intron 2 of 22 | 1 | NM_002693.3 | ENSP00000268124.5 | |||
POLGARF | ENST00000706918.1 | c.715-290T>C | intron_variant | Intron 1 of 1 | ENSP00000516626.1 |
Frequencies
GnomAD3 genomes AF: 0.366 AC: 55661AN: 151906Hom.: 10489 Cov.: 32
GnomAD4 genome AF: 0.366 AC: 55669AN: 152024Hom.: 10490 Cov.: 32 AF XY: 0.373 AC XY: 27721AN XY: 74298
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at