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NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 19, 2021
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:
RCV001782782.10

Allele description [Variation Report for NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)]

NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)

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.799C>T (p.Arg267Trp)
HGVS:
  • NC_000001.11:g.45509165C>T
  • NG_013378.1:g.13982C>T
  • NM_001330540.2:c.628C>T
  • NM_015506.3:c.799C>TMANE SELECT
  • NP_001317469.1:p.Arg210Trp
  • NP_056321.2:p.Arg267Trp
  • NC_000001.10:g.45974837C>T
  • NM_015506.2:c.799C>T
Protein change:
R210W
Links:
dbSNP: rs34258482
NCBI 1000 Genomes Browser:
rs34258482
Molecular consequence:
  • NM_001330540.2:c.628C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015506.3:c.799C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000527610GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Nov 19, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000527610.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported as a variant of uncertain significance in a compound heterozygous state with MMACHC p.(R153Q) in an unaffected infant with a false-positive newborn screen that showed elevated leucine (Wang et al. 2019); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30612563)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024