rs121918307
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PVS1_StrongPM2PP5
The NM_015713.5(RRM2B):c.850C>T(p.Gln284Ter) variant causes a stop gained change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,832 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 Pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. Q284Q) has been classified as Likely benign.
Frequency
Consequence
NM_015713.5 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RRM2B | NM_015713.5 | c.850C>T | p.Gln284Ter | stop_gained | 8/9 | ENST00000251810.8 | |
RRM2B | NM_001172477.1 | c.1066C>T | p.Gln356Ter | stop_gained | 8/9 | ||
RRM2B | NM_001172478.2 | c.694C>T | p.Gln232Ter | stop_gained | 7/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RRM2B | ENST00000251810.8 | c.850C>T | p.Gln284Ter | stop_gained | 8/9 | 1 | NM_015713.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250450Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135420
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459832Hom.: 0 Cov.: 28 AF XY: 0.00000138 AC XY: 1AN XY: 726352
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Mitochondrial DNA depletion syndrome 8a Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jun 01, 2007 | - - |
RRM2B-related mitochondrial disease Other:1
not provided, no classification provided | literature only | GeneReviews | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at