NM_000255.4(MMUT):c.1946del (p.Pro649fs) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Feb 20, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000672834.1

Allele description [Variation Report for NM_000255.4(MMUT):c.1946del (p.Pro649fs)]

NM_000255.4(MMUT):c.1946del (p.Pro649fs)

Gene:
MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p12.3
Genomic location:
Preferred name:
NM_000255.4(MMUT):c.1946del (p.Pro649fs)
HGVS:
  • NC_000006.12:g.49440218del
  • NG_007100.1:g.27924del
  • NM_000255.4:c.1946delMANE SELECT
  • NP_000246.2:p.Pro649fs
  • NC_000006.11:g.49407929del
  • NC_000006.11:g.49407931del
  • NM_000255.3:c.1946delC
Protein change:
P649fs
Links:
dbSNP: rs1554158754
NCBI 1000 Genomes Browser:
rs1554158754
Molecular consequence:
  • NM_000255.4:c.1946del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Synonyms:
Methylmalonic aciduria, mut type; METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
Identifiers:
MONDO: MONDO:0009612; MedGen: C1855114; OMIM: 251000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000797980Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 20, 2018)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.

Worgan LC, Niles K, Tirone JC, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, Rosenblatt DS.

Hum Mutat. 2006 Jan;27(1):31-43.

PubMed [citation]
PMID:
16281286

Details of each submission

From Counsyl, SCV000797980.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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