NM_000255.4(MMUT):c.753+3A>G AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Germline classification:: Likely pathogenic (1 submission)
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:: RCV003983778.1

Allele description [Variation Report for NM_000255.4(MMUT):c.753+3A>G]

NM_000255.4(MMUT):c.753+3A>G

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.753+3A>G

HGVS:

NC_000006.12:g.49457688T>C
NG_007100.1:g.10452A>G
NM_000255.4:c.753+3A>GMANE SELECT
NC_000006.11:g.49425401T>C

Molecular consequence:

NM_000255.4:c.753+3A>G - intron variant - [Sequence Ontology: SO:0001627]

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

Recent activity

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Phytophthora pseudocryptogea voucher WS-I80 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1 and 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|1375384615|gb|MH171649.1|

Nucleotide
Pseudomonas aeruginosa 148 contig_105, whole genome shotgun sequence
Pseudomonas aeruginosa 148 contig_105, whole genome shotgun sequence
gi|1209293886|ref|NZ_ATAJ02000104.1 |WGS:NZ_ATAJ02|contig_105

Nucleotide
Facial shape deformation
Facial shape deformation

MedGen
C4021159[conceptid] (1)
MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004800884	Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital	no assertion criteria provided (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004800884

Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital

no assertion criteria provided

(ACMG Guidelines, 2015)

Likely pathogenic

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Han	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PMC

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Details of each submission

From Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital, SCV004800884.1

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

Description

PM2_P+PM3_S+PP3+PP4

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

Last Updated: Oct 8, 2024

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