NM_052845.4(MMAB):c.107del (p.Gly36fs) AND Methylmalonic aciduria, cblB type

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 21, 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:: RCV000673427.1

Allele description [Variation Report for NM_052845.4(MMAB):c.107del (p.Gly36fs)]

NM_052845.4(MMAB):c.107del (p.Gly36fs)

Genes:

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

Variant type:

Deletion

Cytogenetic location:

12q24.11

Genomic location:

Preferred name:

NM_052845.4(MMAB):c.107del (p.Gly36fs)

HGVS:

NC_000012.12:g.109573375del
NG_007096.1:g.5124del
NG_007702.1:g.4681del
NM_052845.4:c.107delMANE SELECT
NP_443077.1:p.Gly36fs
LRG_156:g.4681del
NC_000012.11:g.110011180del
NM_052845.3:c.107delG
NR_038118.2:n.131del

Protein change:

G36fs

Links:

dbSNP: rs1555276160

NCBI 1000 Genomes Browser:

rs1555276160

Molecular consequence:

NM_052845.4:c.107del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_038118.2:n.131del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Methylmalonic aciduria, cblB type (MACB)
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
SCV000798628	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Mar 21, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000798628

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Mar 21, 2018)

unknown

clinical testing

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

Details of each submission

From Counsyl, SCV000798628.1

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

#	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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