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NM_052845.4(MMAB):c.*366_*378delinsAGA AND Methylmalonic acidemia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000408027.5

Allele description [Variation Report for NM_052845.4(MMAB):c.*366_*378delinsAGA]

NM_052845.4(MMAB):c.*366_*378delinsAGA

Gene:
MMAB:metabolism of cobalamin associated B [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_052845.4(MMAB):c.*366_*378delinsAGA
HGVS:
  • NC_000012.12:g.109556650_109556662delinsTCT
  • NG_007096.1:g.21836_21848delinsAGA
  • NM_052845.4:c.*366_*378delinsAGAMANE SELECT
  • NC_000012.11:g.109994455_109994467delinsTCT
  • NM_052845.3:c.*366_*378delTGTGTGTGTGTGTinsAGA
  • NR_038118.2:n.1230_1242delinsAGA
Links:
dbSNP: rs886048925
NCBI 1000 Genomes Browser:
rs886048925
Molecular consequence:
  • NM_052845.4:c.*366_*378delinsAGA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_038118.2:n.1230_1242delinsAGA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Methylmalonic acidemia (MMA)
Synonyms:
Isolated Methylmalonic Acidemia
Identifiers:
MONDO: MONDO:0002012; MeSH: C537358; MedGen: C0268583; Human Phenotype Ontology: HP:0002912

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000375731Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000375731.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 9, 2023