NM_000255.4(MMUT):c.260G>A (p.Gly87Glu) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 15, 2018
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:: RCV000674559.1

Allele description [Variation Report for NM_000255.4(MMUT):c.260G>A (p.Gly87Glu)]

NM_000255.4(MMUT):c.260G>A (p.Gly87Glu)

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.260G>A (p.Gly87Glu)

HGVS:

NC_000006.12:g.49459207C>T
NG_007100.1:g.8933G>A
NM_000255.4:c.260G>AMANE SELECT
NP_000246.2:p.Gly87Glu
NC_000006.11:g.49426920C>T
NM_000255.3:c.260G>A

Protein change:

G87E

Links:

dbSNP: rs1554160986

NCBI 1000 Genomes Browser:

rs1554160986

Molecular consequence:

NM_000255.4:c.260G>A - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000799915	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (May 15, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000799915

Counsyl

criteria provided, single submitter

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

Uncertain significance
(May 15, 2018)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

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

Details of each submission

From Counsyl, SCV000799915.1

#	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

Last Updated: Oct 8, 2024

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