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NM_015702.3(MMADHC):c.743G>A (p.Arg248His) AND Methylmalonic aciduria and homocystinuria type cblD

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 13, 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:
RCV001279363.2

Allele description [Variation Report for NM_015702.3(MMADHC):c.743G>A (p.Arg248His)]

NM_015702.3(MMADHC):c.743G>A (p.Arg248His)

Gene:
MMADHC:metabolism of cobalamin associated D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q23.2
Genomic location:
Preferred name:
NM_015702.3(MMADHC):c.743G>A (p.Arg248His)
HGVS:
  • NC_000002.12:g.149570122C>T
  • NG_009189.1:g.22695G>A
  • NM_015702.3:c.743G>AMANE SELECT
  • NP_056517.1:p.Arg248His
  • NC_000002.11:g.150426636C>T
Protein change:
R248H
Links:
dbSNP: rs756858861
NCBI 1000 Genomes Browser:
rs756858861
Molecular consequence:
  • NM_015702.3:c.743G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Methylmalonic aciduria and homocystinuria type cblD (MAHCD)
Synonyms:
METHYLMALONIC ACIDEMIA, cblH TYPE; Methylmalonic acidemia with homocystinuria cblD; Methylmalonic aciduria with homocystinuria cblD type
Identifiers:
MONDO: MONDO:0010185; MedGen: C1848552; Orphanet: 622; Orphanet: 79283; OMIM: 277410

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001466452Natera, Inc.
no assertion criteria provided
Uncertain significance
(Aug 13, 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., SCV001466452.1

#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: Oct 20, 2024