NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) AND Methylmalonic aciduria, cblB type

Germline classification:: Benign (2 submissions)
Last evaluated:: Feb 1, 2024
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:: RCV000408901.20

Allele description [Variation Report for NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln)]

NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln)

Genes:

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

Variant type:

Indel

Cytogenetic location:

12q24.11

Genomic location:

Preferred name:

NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln)

HGVS:

NC_000012.12:g.109573424_109573425delinsTT
NG_007096.1:g.5073_5074delinsAA
NG_007702.1:g.4730_4731delinsTT
NM_052845.4:c.56_57delinsAAMANE SELECT
NP_443077.1:p.Arg19Gln
LRG_156:g.4730_4731delinsTT
NC_000012.11:g.110011229_110011230delinsTT
NM_052845.3:c.56_57delGCinsAA
NR_038118.2:n.80_81delinsAA

Protein change:

R19Q

Links:

dbSNP: rs36013132

NCBI 1000 Genomes Browser:

rs36013132

Molecular consequence:

NM_052845.4:c.56_57delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NR_038118.2:n.80_81delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Methylmalonic aciduria, cblB type
Synonyms:: METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE; Methylmalonic acidemia cblB type; Vitamin B12-responsive methylmalonic acidemia type cblB
Identifiers:: MONDO: MONDO:0009614; MedGen: C1855102; Orphanet: 28; Orphanet: 79311; OMIM: 251110

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000485048	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no assertion criteria provided	Likely benign (Dec 21, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000641764	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000485048

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no assertion criteria provided

Likely benign
(Dec 21, 2016)

germline

literature only

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

SCV000641764

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 1, 2024)

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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000485048.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	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 Invitae, SCV000641764.8

#	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: Sep 1, 2024

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