NM_000255.4(MMUT):c.29dup (p.Leu10fs) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 24, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000668699.1

Allele description [Variation Report for NM_000255.4(MMUT):c.29dup (p.Leu10fs)]

NM_000255.4(MMUT):c.29dup (p.Leu10fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

6p12.3

Genomic location:

Preferred name:

NM_000255.4(MMUT):c.29dup (p.Leu10fs)

HGVS:

NC_000006.12:g.49459444dup
NG_007100.1:g.8702dup
NM_000255.4:c.29dupMANE SELECT
NP_000246.2:p.Leu10fs
NC_000006.11:g.49427150_49427151insA
NC_000006.11:g.49427157dup
NM_000255.3:c.29dupT

Protein change:

L10fs

Links:

dbSNP: rs1437477079

NCBI 1000 Genomes Browser:

rs1437477079

Molecular consequence:

NM_000255.4:c.29dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000793343	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Pathogenic (Aug 24, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 27233228, 25959030 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000793343

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Pathogenic
(Aug 24, 2017)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.

Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS.

Mol Genet Metab. 2016 Aug;118(4):264-71. doi: 10.1016/j.ymgme.2016.05.014. Epub 2016 May 20. Erratum in: Mol Genet Metab. 2017 Mar;120(3):295. doi: 10.1016/j.ymgme.2016.11.001.

PubMed [citation]

PMID:: 27233228

Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).

Ktena YP, Paul SM, Hauser NS, Sloan JL, Gropman A, Manoli I, Venditti CP.

Am J Med Genet A. 2015 Sep;167A(9):2075-84. doi: 10.1002/ajmg.a.37127. Epub 2015 May 10.

PubMed [citation]

PMID:: 25959030
PMCID:: PMC9017244

Details of each submission

From Counsyl, SCV000793343.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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