NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn) AND ALG11-congenital disorder of glycosylation

Germline classification:: Likely pathogenic (1 submission)
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:: RCV002305446.9

Allele description [Variation Report for NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn)]

NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn)

Genes:

ALG11:ALG11 alpha-1,2-mannosyltransferase [Gene - OMIM - HGNC]
UTP14C:UTP14C small subunit processome component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

Preferred name:

NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn)

HGVS:

NC_000013.11:g.52028352T>A
NG_028038.1:g.20966T>A
NG_028038.2:g.20956T>A
NM_001004127.3:c.1241T>AMANE SELECT
NM_021645.6:c.-453T>AMANE SELECT
NP_001004127.2:p.Ile414Asn
NP_001004127.2:p.Ile414Asn
NP_001004127.2:p.Ile414Asn
NC_000013.10:g.52602488T>A
NM_001004127.2:c.1241T>A
NR_036571.3:n.99T>A

Protein change:

I414N

Links:

dbSNP: rs398123525

NCBI 1000 Genomes Browser:

rs398123525

Molecular consequence:

NM_021645.6:c.-453T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001004127.3:c.1241T>A - missense variant - [Sequence Ontology: SO:0001583]
NR_036571.3:n.99T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218]

Observations:

Condition(s)

Name:: ALG11-congenital disorder of glycosylation
Synonyms:: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; Congenital disorder of glycosylation type 1P; ALG11-CDG
Identifiers:: MONDO: MONDO:0013349; MedGen: C3150913; Orphanet: 280071; OMIM: 613661

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002599102	Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 28122681, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002599102

Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	2	not provided	not provided	not provided	clinical testing

Citations

PubMed

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.

Al Teneiji A, Bruun TU, Sidky S, Cordeiro D, Cohn RD, Mendoza-Londono R, Moharir M, Raiman J, Siriwardena K, Kyriakopoulou L, Mercimek-Mahmutoglu S.

Mol Genet Metab. 2017 Mar;120(3):235-242. doi: 10.1016/j.ymgme.2016.12.014. Epub 2017 Jan 3.

PubMed [citation]

PMID:: 28122681

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 Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV002599102.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	2	not provided

Last Updated: Nov 10, 2024

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