NM_002435.2(MPI):c.1205A>G (p.Glu402Gly) AND Congenital disorder of glycosylation type 1B

Clinical significance:Pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000202323.1

Allele description

NM_002435.2(MPI):c.1205A>G (p.Glu402Gly)

Gene:
MPI:mannose phosphate isomerase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q24.1
Genomic location:
Preferred name:
NM_002435.2(MPI):c.1205A>G (p.Glu402Gly)
HGVS:
  • NC_000015.10:g.74897663A>G
  • NG_008921.1:g.12595A>G
  • NM_001289155.1:c.*132A>G
  • NM_002435.2:c.1205A>G
  • NP_002426.1:p.Glu402Gly
  • NC_000015.9:g.75190004A>G
Protein change:
E402G
Links:
dbSNP: rs863225086
NCBI 1000 Genomes Browser:
rs863225086
Molecular consequence:
  • NM_001289155.1:c.*132A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_002435.2:c.1205A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital disorder of glycosylation type 1B (CDG1B)
Synonyms:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG Ib; Saguenay Lac Saint Jean syndrome
Identifiers:
MedGen: C1865145; Orphanet: 79319; OMIM: 602579
Age of onset:
Infancy
Prevalence:
<1 / 1 000 000 79319

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000256094Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute

See additional submitters

criteria provided, single submitter
Pathogenicinheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute, SCV000256094.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

This variant was identified in a male who presented clinically normal until the age of 2 when he became ill with persistent vomiting and venous sinus thrombosis which resulted in a massive stroke. Subsequently he developed a seizure disorder and delayed development. Full metabolic work up was normal except for the presence of a Type I CDG profile. Given his history of normal development prior to the stroke, MPI-CDG was suggested. Enzyme assay concluded he had MPI-CDG. The enzyme assay was performed as previously reported from the Freeze lab, PMID: 9525984. “Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.” Genetic analysis revealed two single nucleotide variants inherited in a compound heterozygous fashion, NM_002435.2:c.1205A>G and NM_002435.2:c.1253G>A. The c.1205A>G variant has not been previously reported in ExAc, dbSNP, or ESP. The predicted protein change for NM_002435.2:c.1205A>G is a Glutamate to Glycine; this residue is moderately conserved (Glu in humans through zebrafish). MutationTaster predicts this mutation to be deleterious.

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

Last Updated: Jul 15, 2017