rs892999189
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_002693.3(POLG):c.15C>T(p.Leu5=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000723 in 1,383,130 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. Synonymous variant affecting the same amino acid position (i.e. L5L) has been classified as Likely benign.
Frequency
Consequence
NM_002693.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POLG | NM_002693.3 | c.15C>T | p.Leu5= | synonymous_variant | 2/23 | ENST00000268124.11 | |
POLGARF | NM_001406557.1 | c.70C>T | p.Leu24= | synonymous_variant | 2/23 | ||
POLG | NM_001126131.2 | c.15C>T | p.Leu5= | synonymous_variant | 2/23 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLG | ENST00000268124.11 | c.15C>T | p.Leu5= | synonymous_variant | 2/23 | 1 | NM_002693.3 | P1 | |
POLGARF | ENST00000706918.1 | c.70C>T | p.Leu24= | synonymous_variant | 1/2 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000766 AC: 1AN: 130508Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 71406
GnomAD4 exome AF: 7.23e-7 AC: 1AN: 1383130Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 682612
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at