ENST00000625766.2:n.-422C>G
Variant names: 
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_015506.3(MMACHC):c.81+57C>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
 GnomAD MNV: 𝑓 N/A  
 Genomes: 𝑓 N/A   (  N/A   hom.,  cov: ) 
 Exomes 𝑓:  N/A   (  N/A   hom.  ) 
Consequence
 MMACHC
NM_015506.3 intron
NM_015506.3 intron
Scores
 Not classified 
Clinical Significance
 Not reported in ClinVar 
Conservation
 No conservation score assigned 
Publications
 No publications found 
Genes affected
 MMACHC  (HGNC:24525):  (metabolism of cobalamin associated C) The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009] 
MMACHC Gene-Disease associations (from GenCC):
- methylmalonic aciduria and homocystinuria type cblCInheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Labcorp Genetics (formerly Invitae), Ambry Genetics, Myriad Women’s Health, ClinGen, G2P, Orphanet
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt | 
|---|---|---|---|---|---|---|---|---|
| MMACHC | NM_015506.3 | c.81+57C>. | intron_variant | Intron 1 of 3 | ENST00000401061.9 | NP_056321.2 | ||
| MMACHC | NM_001330540.2 | c.-142+57C>. | intron_variant | Intron 1 of 3 | NP_001317469.1 | 
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt | 
|---|---|---|---|---|---|---|---|---|---|---|
| MMACHC | ENST00000401061.9 | c.81+57C>. | intron_variant | Intron 1 of 3 | 2 | NM_015506.3 | ENSP00000383840.4 | |||
| MMACHC | ENST00000616135.1 | c.-91+57C>. | intron_variant | Intron 1 of 4 | 2 | ENSP00000478859.1 | 
Frequencies
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
We have no GnomAD4 genomes data on this position. Probably position not covered by the project.
ClinVar
Not reported inComputational scores
Source: 
Name
Calibrated prediction
Score
Prediction
Splicing
Name
Calibrated prediction
Score
Prediction
 Find out detailed SpliceAI scores and Pangolin per-transcript scores at 
Publications
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