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NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile) AND Developmental and epileptic encephalopathy, 36

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 14, 2020
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:
RCV001089751.1

Allele description [Variation Report for NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile)]

NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile)

Gene:
ALG13:ALG13 UDP-N-acetylglucosaminyltransferase subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile)
HGVS:
  • NC_000023.11:g.111685040A>T
  • NG_016238.1:g.8923A>T
  • NM_001039210.5:c.261A>T
  • NM_001099922.3:c.320A>TMANE SELECT
  • NM_001168385.3:c.320A>T
  • NM_001257230.2:c.8A>T
  • NM_001257231.2:c.86A>T
  • NM_001257234.2:c.8A>T
  • NM_001257235.3:c.8A>T
  • NM_001257237.2:c.8A>T
  • NM_001257239.3:c.8A>T
  • NM_001257240.3:c.8A>T
  • NM_001257241.3:c.86A>T
  • NM_001324290.2:c.326A>T
  • NM_001324291.2:c.8A>T
  • NM_001324292.2:c.320A>T
  • NM_001324293.1:c.8A>T
  • NM_001324294.2:c.8A>T
  • NM_018466.6:c.320A>T
  • NP_001034299.3:p.Gln87His
  • NP_001093392.1:p.Asn107Ile
  • NP_001161857.1:p.Asn107Ile
  • NP_001244159.1:p.Asn3Ile
  • NP_001244160.1:p.Asn29Ile
  • NP_001244163.1:p.Asn3Ile
  • NP_001244164.1:p.Asn3Ile
  • NP_001244166.1:p.Asn3Ile
  • NP_001244168.1:p.Asn3Ile
  • NP_001244169.1:p.Asn3Ile
  • NP_001244170.1:p.Asn29Ile
  • NP_001311219.1:p.Asn109Ile
  • NP_001311220.1:p.Asn3Ile
  • NP_001311221.1:p.Asn107Ile
  • NP_001311222.1:p.Asn3Ile
  • NP_001311223.1:p.Asn3Ile
  • NP_060936.1:p.Asn107Ile
  • NC_000023.10:g.110928268A>T
  • NM_001099922.2:c.320A>T
  • NR_033125.3:n.265A>T
  • NR_136735.2:n.390A>T
  • NR_148693.2:n.369A>T
  • p.Asn107Ile
Protein change:
N107I
Links:
dbSNP: rs398122394
NCBI 1000 Genomes Browser:
rs398122394
Molecular consequence:
  • NM_001039210.5:c.261A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099922.3:c.320A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001168385.3:c.320A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257230.2:c.8A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257231.2:c.86A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257234.2:c.8A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257235.3:c.8A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257237.2:c.8A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257239.3:c.8A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257240.3:c.8A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257241.3:c.86A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324290.2:c.326A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324291.2:c.8A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324292.2:c.320A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324293.1:c.8A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324294.2:c.8A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018466.6:c.320A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033125.3:n.265A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136735.2:n.390A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148693.2:n.369A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 36 (DEE36)
Synonyms:
Epileptic encephalopathy, early infantile, 36; Congenital disorder of glycosylation, type Is; ALG13-CDG
Identifiers:
MONDO: MONDO:0010472; MedGen: C4317295; Orphanet: 324422; OMIM: 300884

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001245239Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 14, 2020) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot 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 Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics, SCV001245239.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023