2-60771567-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_022894.4(PAPOLG):c.541T>G(p.Leu181Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,455,962 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_022894.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PAPOLG | NM_022894.4 | c.541T>G | p.Leu181Val | missense_variant | Exon 7 of 22 | ENST00000238714.8 | NP_075045.2 | |
PAPOLG | XM_005264500.5 | c.541T>G | p.Leu181Val | missense_variant | Exon 7 of 21 | XP_005264557.1 | ||
PAPOLG | XM_005264501.3 | c.409T>G | p.Leu137Val | missense_variant | Exon 7 of 22 | XP_005264558.1 | ||
PAPOLG | XR_007080681.1 | n.752T>G | non_coding_transcript_exon_variant | Exon 7 of 16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PAPOLG | ENST00000238714.8 | c.541T>G | p.Leu181Val | missense_variant | Exon 7 of 22 | 1 | NM_022894.4 | ENSP00000238714.3 | ||
PAPOLG | ENST00000414060.5 | n.409T>G | non_coding_transcript_exon_variant | Exon 7 of 21 | 1 | ENSP00000405599.1 | ||||
PAPOLG | ENST00000453839.5 | n.474+1056T>G | intron_variant | Intron 5 of 19 | 1 | ENSP00000414070.1 | ||||
PAPOLG | ENST00000496283.5 | n.572+1056T>G | intron_variant | Intron 6 of 18 | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000406 AC: 1AN: 246076Hom.: 0 AF XY: 0.00000750 AC XY: 1AN XY: 133330
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1455962Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 724388
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.541T>G (p.L181V) alteration is located in exon 7 (coding exon 7) of the PAPOLG gene. This alteration results from a T to G substitution at nucleotide position 541, causing the leucine (L) at amino acid position 181 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at