NM_005787.6(ALG3):c.796C>T (p.Arg266Cys) AND ALG3-congenital disorder of glycosylation

Germline classification:: Pathogenic (1 submission)
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:: RCV001543406.1

Allele description [Variation Report for NM_005787.6(ALG3):c.796C>T (p.Arg266Cys)]

NM_005787.6(ALG3):c.796C>T (p.Arg266Cys)

Gene:

ALG3:ALG3 alpha-1,3- mannosyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

Preferred name:

NM_005787.6(ALG3):c.796C>T (p.Arg266Cys)

HGVS:

NC_000003.12:g.184243927G>A
NG_008924.2:g.10586C>T
NM_001006941.2:c.652C>T
NM_005787.6:c.796C>TMANE SELECT
NP_001006942.1:p.Arg218Cys
NP_005778.1:p.Arg266Cys
NC_000003.11:g.183961715G>A
NM_005787.5:c.796C>T
NR_024533.1:n.727C>T
NR_024534.1:n.790C>T

Protein change:

R218C

Links:

dbSNP: rs747953768

NCBI 1000 Genomes Browser:

rs747953768

Molecular consequence:

NM_001006941.2:c.652C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_005787.6:c.796C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_024533.1:n.727C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_024534.1:n.790C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: ALG3-congenital disorder of glycosylation
Synonyms:: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG Id; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010998; MedGen: C1832736; Orphanet: 79321; OMIM: 601110

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001761964	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Pathogenic	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001761964

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Pathogenic

inherited

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.

Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA; University of Washington Center for Mendelian Genomics (UW-CMG)., Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He M, Edmondson AC, Lam C.

J Inherit Metab Dis. 2021 Jul;44(4):987-1000. doi: 10.1002/jimd.12367. Epub 2021 Mar 1.

PubMed [citation]

PMID:: 33583022
PMCID:: PMC8282734

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001761964.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

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

Last Updated: Dec 24, 2023

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