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NM_002435.3(MPI):c.796G>A (p.Glu266Lys) AND MPI-congenital disorder of glycosylation

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Feb 25, 2022
Review status:
criteria provided, conflicting classifications
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:
RCV000989360.5

Allele description [Variation Report for NM_002435.3(MPI):c.796G>A (p.Glu266Lys)]

NM_002435.3(MPI):c.796G>A (p.Glu266Lys)

Gene:
MPI:mannose phosphate isomerase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q24.1
Genomic location:
Preferred name:
NM_002435.3(MPI):c.796G>A (p.Glu266Lys)
HGVS:
  • NC_000015.10:g.74896277G>A
  • NG_008921.1:g.11209G>A
  • NM_001289155.2:c.796G>A
  • NM_001289156.2:c.646G>A
  • NM_001289157.2:c.613G>A
  • NM_001330372.2:c.736G>A
  • NM_002435.3:c.796G>AMANE SELECT
  • NP_001276084.1:p.Glu266Lys
  • NP_001276085.1:p.Glu216Lys
  • NP_001276086.1:p.Glu205Lys
  • NP_001317301.1:p.Glu246Lys
  • NP_002426.1:p.Glu266Lys
  • NC_000015.9:g.75188618G>A
Protein change:
E205K
Links:
dbSNP: rs1595822583
NCBI 1000 Genomes Browser:
rs1595822583
Molecular consequence:
  • NM_001289155.2:c.796G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289156.2:c.646G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289157.2:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330372.2:c.736G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002435.3:c.796G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MPI-congenital disorder of glycosylation
Synonyms:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG Ib; Congenital disorder of glycosylation type 1B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011257; MedGen: C1865145; Orphanet: 79319; OMIM: 602579

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001139656Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Uncertain significance
(Feb 25, 2022) 		unknownclinical testing

Citation Link,

SCV002512397Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 3, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

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 Mendelics, SCV001139656.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512397.1

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

Description

ACMG classification criteria: PS4 supporting, PM2 moderate, PM3 moderate, PP3 supporting

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

Last Updated: Feb 4, 2024