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NM_000255.4(MMUT):c.1946del (p.Pro649fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
May 7, 2020
Accession:
VCV000556782.3
Variation ID:
556782
Description:
1bp deletion
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NM_000255.4(MMUT):c.1946del (p.Pro649fs)

Allele ID
544133
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
6p12.3
Genomic location
6: 49440216 (GRCh38) GRCh38 UCSC
6: 49407929 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.49407931del
NC_000006.12:g.49440218del
NG_007100.1:g.27924del
NM_000255.4:c.1946del MANE Select NP_000246.2:p.Pro649fs frameshift
Protein change
P649fs
Other names
-
Canonical SPDI
NC_000006.12:49440215:GGG:GG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554158754
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 20, 2018 RCV000672834.1
Likely pathogenic 1 criteria provided, single submitter May 7, 2020 RCV001199896.1
Pathogenic 1 criteria provided, single submitter Mar 5, 2020 RCV001386489.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MMUT - - GRCh38
GRCh37
589 611

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 20, 2018)
criteria provided, single submitter
Method: clinical testing
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000797980.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(May 07, 2020)
criteria provided, single submitter
Method: clinical testing
Methylmalonic acidemia
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001370652.1
Submitted: (Jul 01, 2020)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: MUT c.1946delC (p.Pro649LeufsX23) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Mar 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001586732.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Pro649Leufs*23) in the MUT gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations. Chu J Molecular genetics and metabolism 2016 PMID: 27233228
Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes. Froese DS Expert reviews in molecular medicine 2010 PMID: 21114891
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. Worgan LC Human mutation 2006 PMID: 16281286
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. Martínez MA Molecular genetics and metabolism 2005 PMID: 15781192

Text-mined citations for rs1554158754...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021