NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Germline classification:: Pathogenic (5 submissions)
Last evaluated:: Feb 11, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000236154.11

Allele description [Variation Report for NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)]

NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)

Gene:

MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p12.3

Genomic location:

Preferred name:

NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)

HGVS:

NC_000006.12:g.49431781G>A
NG_007100.1:g.36359C>T
NM_000255.4:c.2200C>TMANE SELECT
NP_000246.2:p.Gln734Ter
NC_000006.11:g.49399494G>A
NM_000255.3:c.2200C>T

Protein change:

Q734*

Links:

dbSNP: rs879253852

NCBI 1000 Genomes Browser:

rs879253852

Molecular consequence:

NM_000255.4:c.2200C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MAMM)
Synonyms:: Methylmalonic aciduria, mut type
Identifiers:: MONDO: MONDO:0009612; MedGen: C1855114; OMIM: 251000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000262815	University Children's Hospital, University of Zurich	criteria provided, single submitter (Forny et al. (Hum Mutat. 2016))	Pathogenic	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25736335, 27167370
SCV001438919	Pathology and Clinical Laboratory Medicine, King Fahad Medical City	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	Citation Link,
SCV002017620	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 28, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003927915	Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	no assertion criteria provided	Pathogenic (Apr 1, 2023)	germline	clinical testing
SCV004800990	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 11, 2024)	germline	research	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, research
Arab	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR.

Hum Mutat. 2015 Jun;36(6):611-21. doi: 10.1002/humu.22779. Epub 2015 Apr 27.

PubMed [citation]

PMID:: 25736335

Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.

Forny P, Schnellmann AS, Buerer C, Lutz S, Fowler B, Froese DS, Baumgartner MR.

Hum Mutat. 2016 Aug;37(8):745-54. doi: 10.1002/humu.23013. Epub 2016 May 23.

PubMed [citation]

PMID:: 27167370

See all PubMed Citations (3)

Details of each submission

From University Children's Hospital, University of Zurich, SCV000262815.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Pathology and Clinical Laboratory Medicine, King Fahad Medical City, SCV001438919.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Arab	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002017620.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), SCV003927915.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004800990.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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