NM_002435.3(MPI):c.802_803del (p.Met268fs) AND MPI-congenital disorder of glycosylation

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 27, 2017
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:: RCV000666756.1

Allele description [Variation Report for NM_002435.3(MPI):c.802_803del (p.Met268fs)]

NM_002435.3(MPI):c.802_803del (p.Met268fs)

Gene:

MPI:mannose phosphate isomerase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q24.1

Genomic location:

Preferred name:

NM_002435.3(MPI):c.802_803del (p.Met268fs)

HGVS:

NC_000015.10:g.74896283_74896284del
NG_008921.1:g.11215_11216del
NM_001289155.2:c.802_803del
NM_001289156.2:c.652_653del
NM_001289157.2:c.619_620del
NM_001330372.2:c.742_743del
NM_002435.3:c.802_803delMANE SELECT
NP_001276084.1:p.Met268fs
NP_001276085.1:p.Met218fs
NP_001276086.1:p.Met207fs
NP_001317301.1:p.Met248fs
NP_002426.1:p.Met268fs
NC_000015.9:g.75188624_75188625del
NM_002435.1:c.802_803delAT

Protein change:

M207fs

Links:

dbSNP: rs1555479227

NCBI 1000 Genomes Browser:

rs1555479227

Molecular consequence:

NM_001289155.2:c.802_803del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001289156.2:c.652_653del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001289157.2:c.619_620del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330372.2:c.742_743del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002435.3:c.802_803del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000791106	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Apr 27, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000791106

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Apr 27, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000791106.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2022

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