NM_001004127.3(ALG11):c.991G>T (p.Val331Phe) AND ALG11-congenital disorder of glycosylation

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 15, 2019
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:: RCV001330083.1

Allele description [Variation Report for NM_001004127.3(ALG11):c.991G>T (p.Val331Phe)]

NM_001004127.3(ALG11):c.991G>T (p.Val331Phe)

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.991G>T (p.Val331Phe)

HGVS:

NC_000013.11:g.52024721G>T
NG_028038.1:g.17335G>T
NG_028038.2:g.17325G>T
NM_001004127.3:c.991G>TMANE SELECT
NM_021645.6:c.-703G>TMANE SELECT
NP_001004127.2:p.Val331Phe
NC_000013.10:g.52598857G>T
NM_001004127.2:c.991G>T

Protein change:

V331F

Links:

dbSNP: rs750430228

NCBI 1000 Genomes Browser:

rs750430228

Molecular consequence:

NM_021645.6:c.-703G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001004127.3:c.991G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001521681	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 15, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001521681

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 15, 2019)

unknown

clinical testing

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Baylor Genetics, SCV001521681.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Sep 1, 2024

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