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NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) AND Methylmalonic acidemia with homocystinuria cblC

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 16, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001275220.1

Allele description [Variation Report for NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)]

NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)

Genes:
LOC129930446:ATAC-STARR-seq lymphoblastoid active region 972 [Gene]
MMACHC:metabolism of cobalamin associated C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
HGVS:
  • NC_000001.11:g.45509054C>T
  • NG_013378.1:g.13871C>T
  • NM_001330540.2:c.517C>T
  • NM_015506.3:c.688C>TMANE SELECT
  • NP_001317469.1:p.Arg173Ter
  • NP_056321.2:p.Arg230Ter
  • NC_000001.10:g.45974726C>T
  • NM_015506.2:c.688C>T
Protein change:
R173*
Links:
dbSNP: rs201183360
NCBI 1000 Genomes Browser:
rs201183360
Molecular consequence:
  • NM_001330540.2:c.517C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015506.3:c.688C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Methylmalonic acidemia with homocystinuria cblC
Synonyms:
Methylmalonic aciduria with homocystinuria cblC type
Identifiers:
MedGen: CN239025

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001460144Natera, Inc.
no assertion criteria provided
Likely pathogenic
(Sep 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001460144.1

#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: May 25, 2025