NM_000255.4(MMUT):c.1022dup (p.Asn341fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 18, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001376592.1

Allele description [Variation Report for NM_000255.4(MMUT):c.1022dup (p.Asn341fs)]

NM_000255.4(MMUT):c.1022dup (p.Asn341fs)

Gene:
MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p12.3
Genomic location:
Preferred name:
NM_000255.4(MMUT):c.1022dup (p.Asn341fs)
HGVS:
  • NC_000006.12:g.49453650dup
  • NG_007100.1:g.14494dup
  • NM_000255.4:c.1022dupMANE SELECT
  • NP_000246.2:p.Asn341fs
  • NC_000006.11:g.49421358_49421359insT
  • NC_000006.11:g.49421363dup
  • NM_000255.3:c.1022dup
  • NM_000255.3:c.1022dupA
  • NM_000255.4:c.1022dupAMANE SELECT
Protein change:
N341fs
Links:
dbSNP: rs752898811
NCBI 1000 Genomes Browser:
rs752898811
Molecular consequence:
  • NM_000255.4:c.1022dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000947111Invitaecriteria provided, single submitter
Pathogenic
(Jan 18, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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

Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.

Forny P, Schnellmann AS, Buerer C, Lutz S, Fowler B, Froese DS, Baumgartner MR.

Hum Mutat. 2016 Aug;37(8):745-54. doi: 10.1002/humu.23013. Epub 2016 May 23.

PubMed [citation]
PMID:
27167370
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV000947111.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Asn341Lysfs*20) in the MUT gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs752898811, ExAC 0.02%). This variant has been observed in combination with another MUT variant in several individuals affected with methylmalonic acidemia (PMID: 16281286, 27167370). ClinVar contains an entry for this variant (Variation ID: 553958). Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Nov 27, 2021

Support Center