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NM_000255.4(MMUT):c.372_374dup (p.Lys124_Asp125insGlu) AND Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 9, 2021
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:
RCV001827993.1

Allele description [Variation Report for NM_000255.4(MMUT):c.372_374dup (p.Lys124_Asp125insGlu)]

NM_000255.4(MMUT):c.372_374dup (p.Lys124_Asp125insGlu)

Gene:
MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p12.3
Genomic location:
Preferred name:
NM_000255.4(MMUT):c.372_374dup (p.Lys124_Asp125insGlu)
HGVS:
  • NC_000006.12:g.49459094_49459096dup
  • NG_007100.1:g.9045_9047dup
  • NM_000255.4:c.372_374dupMANE SELECT
  • NP_000246.2:p.Lys124_Asp125insGlu
  • NC_000006.11:g.49426807_49426809dup
  • NM_000255.3:c.372_374dupGGA
  • p.K124_D125insE
Links:
dbSNP: rs796052009
NCBI 1000 Genomes Browser:
rs796052009
Molecular consequence:
  • NM_000255.4:c.372_374dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002075440Natera, Inc.
no assertion criteria provided
Likely pathogenic
(Feb 9, 2021) 		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., SCV002075440.1

#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: Jun 30, 2022