NM_000255.4(MMUT):c.1581dup (p.Ala528fs) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001257416.1

Allele description [Variation Report for NM_000255.4(MMUT):c.1581dup (p.Ala528fs)]

NM_000255.4(MMUT):c.1581dup (p.Ala528fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

6p12.3

Genomic location:

Preferred name:

NM_000255.4(MMUT):c.1581dup (p.Ala528fs)

HGVS:

NC_000006.12:g.49444735dup
NG_007100.1:g.23406dup
NM_000255.4:c.1581dupMANE SELECT
NP_000246.2:p.Ala528fs
NC_000006.11:g.49412448dup
NM_000255.4:c.1581_1582insAMANE SELECT

Protein change:

A528fs

Links:

dbSNP: rs1767368923

NCBI 1000 Genomes Browser:

rs1767368923

Molecular consequence:

NM_000255.4:c.1581dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
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
SCV001433972	Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	no assertion criteria provided	Likely pathogenic (Jan 1, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001433972

Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University

no assertion criteria provided

Likely pathogenic
(Jan 1, 2020)

germline

clinical testing

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

Details of each submission

From Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, SCV001433972.1

#	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

Last Updated: Jul 29, 2023

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