rs267608689
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM2PM5PP2PP3_StrongPP5
The NM_018082.6(POLR3B):c.2778C>G(p.Asp926Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D926G) has been classified as Pathogenic.
Frequency
Consequence
NM_018082.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POLR3B | NM_018082.6 | c.2778C>G | p.Asp926Glu | missense_variant | 24/28 | ENST00000228347.9 | |
POLR3B | NM_001160708.2 | c.2604C>G | p.Asp868Glu | missense_variant | 24/28 | ||
POLR3B | XM_017019621.3 | c.2778C>G | p.Asp926Glu | missense_variant | 24/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLR3B | ENST00000228347.9 | c.2778C>G | p.Asp926Glu | missense_variant | 24/28 | 1 | NM_018082.6 | P1 | |
ENST00000551505.4 | n.409G>C | non_coding_transcript_exon_variant | 3/3 | 4 | |||||
POLR3B | ENST00000539066.5 | c.2604C>G | p.Asp868Glu | missense_variant | 24/28 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Pathogenic:1Other:1
not provided, no classification provided | literature only | GeneReviews | - | - - |
Pathogenic, no assertion criteria provided | literature only | OMIM | Nov 11, 2011 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at