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NM_000255.4(MMUT):c.385+5G>A AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 22, 2023
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:
RCV001855618.5

Allele description

NM_000255.4(MMUT):c.385+5G>A

Gene:
MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p12.3
Genomic location:
Preferred name:
NM_000255.4(MMUT):c.385+5G>A
HGVS:
  • NC_000006.12:g.49459077C>T
  • NG_007100.1:g.9063G>A
  • NM_000255.4:c.385+5G>AMANE SELECT
  • NC_000006.11:g.49426790C>T
  • NM_000255.3:c.385+5G>A
Links:
dbSNP: rs1460509686
NCBI 1000 Genomes Browser:
rs1460509686
Molecular consequence:
  • NM_000255.4:c.385+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002242569Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 22, 2023) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

[Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP].

Toyo-Oka Y, Wada C, Ohnuki Y, Takada F, Ohtani H.

Rinsho Byori. 1995 Jun;43(6):625-9. Japanese.

PubMed [citation]
PMID:
7602808

Three novel and six common mutations in 11 patients with methylmalonic acidemia.

Kobayashi A, Kakinuma H, Takahashi H.

Pediatr Int. 2006 Feb;48(1):1-4. Erratum in: Pediatr Int. 2007 Feb;49(1):122.

PubMed [citation]
PMID:
16490061
See all PubMed Citations (6)

Details of each submission

From Invitae, SCV002242569.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change falls in intron 2 of the MUT gene. It does not directly change the encoded amino acid sequence of the MUT protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has been observed in individuals with methylmalonic aciduria (PMID: 7602808, 16490061, 17075691). This variant is also known as IVS2+5G>A. ClinVar contains an entry for this variant (Variation ID: 558731). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: Feb 20, 2024