NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Sep 28, 2023
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:: RCV000174456.25

Allele description [Variation Report for NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)]

NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)

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.2150G>T (p.Gly717Val)

HGVS:

NC_000006.12:g.49431831C>A
NG_007100.1:g.36309G>T
NM_000255.4:c.2150G>TMANE SELECT
NP_000246.2:p.Gly717Val
NP_000246.2:p.Gly717Val
NC_000006.11:g.49399544C>A
NM_000255.1:c.2150G>T
NM_000255.3:c.2150G>T
NP_000246.1:p.Gly717Val
P22033:p.Gly717Val

Protein change:

G717V; GLY717VAL

Links:

UniProtKB: P22033#VAR_004432; OMIM: 609058.0005; dbSNP: rs121918252

NCBI 1000 Genomes Browser:

rs121918252

Molecular consequence:

NM_000255.4:c.2150G>T - missense variant - [Sequence Ontology: SO:0001583]

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

Clear Turn Off Turn On

Ribose-phosphate pyrophosphokinase 2 [Caenorhabditis elegans]
Ribose-phosphate pyrophosphokinase 2 [Caenorhabditis elegans]
gi|453231962|ref|NP_001022728.2|

Protein
PREDICTED: Homo sapiens uncharacterized lncRNA (LOC124901277), ncRNA
PREDICTED: Homo sapiens uncharacterized lncRNA (LOC124901277), ncRNA
gi|2217364091|ref|XR_007059507.1|

Nucleotide
Caenorhabditis elegans C2H2-type domain-containing protein (R10E4.11), partial m...
Caenorhabditis elegans C2H2-type domain-containing protein (R10E4.11), partial mRNA
gi|1831510317|ref|NM_001267982.3|

Nucleotide
Caenorhabditis elegans Innexin-11 (inx-11), mRNA
Caenorhabditis elegans Innexin-11 (inx-11), mRNA
gi|1845978393|ref|NM_001269497.3|

Nucleotide
Uncharacterized protein CELE_F40E3.3 [Caenorhabditis elegans]
Uncharacterized protein CELE_F40E3.3 [Caenorhabditis elegans]
gi|392884983|ref|NP_491017.2|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000258513	GeneReviews	no classification provided	not provided	germline	literature only
SCV000788461	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Pathogenic (Apr 21, 2017)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 16281286, 1346616, 25125334, 9285782, 8880917 Citation Link,
SCV000893719	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 12, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002017616	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]

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	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.

Worgan LC, Niles K, Tirone JC, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, Rosenblatt DS.

Hum Mutat. 2006 Jan;27(1):31-43.

PubMed [citation]

PMID:: 16281286

Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.

Crane AM, Jansen R, Andrews ER, Ledley FD.

J Clin Invest. 1992 Feb;89(2):385-91.

PubMed [citation]

PMID:: 1346616
PMCID:: PMC442864

See all PubMed Citations (6)

PMC

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]

PMCID:: PMC4544753
PMID:: 25741868
DOI:: 10.1038/gim.2015.30

Details of each submission

From GeneReviews, SCV000258513.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	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 Counsyl, SCV000788461.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	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

From Fulgent Genetics, Fulgent Genetics, SCV000893719.2

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

From Revvity Omics, Revvity, SCV002017616.3

#	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

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine