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NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr) 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:
RCV001580273.3

Allele description [Variation Report for NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr)]

NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr)

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.1184T>C (p.Met395Thr)
HGVS:
  • NC_000013.11:g.52024914T>C
  • NG_028038.1:g.17528T>C
  • NG_028038.2:g.17518T>C
  • NM_001004127.3:c.1184T>CMANE SELECT
  • NM_021645.6:c.-510T>CMANE SELECT
  • NP_001004127.2:p.Met395Thr
  • NC_000013.10:g.52599050T>C
  • NM_001004127.2:c.1184T>C
Protein change:
M395T
Links:
dbSNP: rs2140840645
NCBI 1000 Genomes Browser:
rs2140840645
Molecular consequence:
  • NM_021645.6:c.-510T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001004127.3:c.1184T>C - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001809939Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical 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

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 Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology, SCV001809939.1

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

Description

PM1, PM2, PM3_supporting, PP3

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

Last Updated: Sep 1, 2024