chr12-109573369-G-A
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PVS1PM2PP5_Moderate
The NM_052845.4(MMAB):c.112C>T(p.Gln38Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,774 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 Likely pathogenic (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_052845.4 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMAB | NM_052845.4 | c.112C>T | p.Gln38Ter | stop_gained | 1/9 | ENST00000545712.7 | |
MVK | XM_047428873.1 | c.84G>A | p.Leu28= | synonymous_variant | 1/11 | ||
MVK | XM_017019313.3 | c.-217G>A | 5_prime_UTR_variant | 1/10 | |||
MMAB | NR_038118.2 | n.136C>T | non_coding_transcript_exon_variant | 1/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMAB | ENST00000545712.7 | c.112C>T | p.Gln38Ter | stop_gained | 1/9 | 1 | NM_052845.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460774Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 726716
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Methylmalonic aciduria, cblB type Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | Baylor Genetics | Jan 25, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.