NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Mar 24, 2022
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:: RCV000186017.17

Allele description [Variation Report for NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)]

NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)

Gene:

MMAB:metabolism of cobalamin associated B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

Preferred name:

NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)

Other names:

p.R186W:CGG>TGG

HGVS:

NC_000012.12:g.109561068G>A
NG_007096.1:g.17430C>T
NM_052845.4:c.556C>TMANE SELECT
NP_443077.1:p.Arg186Trp
NP_443077.1:p.Arg186Trp
NC_000012.11:g.109998873G>A
NM_052845.3:c.556C>T
NR_038118.2:n.667C>T
Q96EY8:p.Arg186Trp
p.R186W

Protein change:

R186W; ARG186TRP

Links:

UniProtKB: Q96EY8#VAR_017205; OMIM: 607568.0001; dbSNP: rs28941784

NCBI 1000 Genomes Browser:

rs28941784

Molecular consequence:

NM_052845.4:c.556C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_038118.2:n.667C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000238979	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Mar 24, 2022)	germline	clinical testing	Citation Link,
SCV000854910	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Pathogenic (Apr 23, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV002503451	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 9, 2020)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 12471062, 31260114, 19625202, 16439175, 16410054, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000238979

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Mar 24, 2022)

germline

clinical testing

Citation Link,

SCV000854910

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Pathogenic
(Apr 23, 2018)

germline

clinical testing

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

Citation Link,

SCV002503451

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 9, 2020)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.

Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA.

Hum Mol Genet. 2002 Dec 15;11(26):3361-9.

PubMed [citation]

PMID:: 12471062

Liver neoplasms in methylmalonic aciduria: An emerging complication.

Forny P, Hochuli M, Rahman Y, Deheragoda M, Weber A, Baruteau J, Grunewald S.

J Inherit Metab Dis. 2019 Sep;42(5):793-802. doi: 10.1002/jimd.12143. Epub 2019 Jul 17.

PubMed [citation]

PMID:: 31260114

See all PubMed Citations (6)

Details of each submission

From GeneDx, SCV000238979.15

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 21048060, 34915869, 31260114, 20696242, 16410054, 12471062, 18251506, 19625202, 16439175, 17957493, 31525265)

#	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 Eurofins Ntd Llc (ga), SCV000854910.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	not provided	not provided

From AiLife Diagnostics, AiLife Diagnostics, SCV002503451.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (6)

#	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		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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