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NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) AND History of neurodevelopmental disorder

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 22, 2016
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:
RCV000716051.1

Allele description

NM_001099922.3(ALG13):c.1266T>C (p.Gly422=)

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.1266T>C (p.Gly422=)
HGVS:
  • NC_000023.11:g.111720110T>C
  • NG_016238.1:g.43993T>C
  • NM_001099922.3:c.1266T>CMANE SELECT
  • NM_001257230.2:c.954T>C
  • NM_001257231.2:c.1032T>C
  • NM_001257234.2:c.954T>C
  • NM_001257237.2:c.954T>C
  • NM_001324292.2:c.1266T>C
  • NM_001324293.1:c.954T>C
  • NP_001093392.1:p.Gly422=
  • NP_001244159.1:p.Gly318=
  • NP_001244160.1:p.Gly344=
  • NP_001244163.1:p.Gly318=
  • NP_001244166.1:p.Gly318=
  • NP_001311221.1:p.Gly422=
  • NP_001311222.1:p.Gly318=
  • NC_000023.10:g.110963338T>C
  • NM_001099922.2:c.1266T>C
  • NM_001257230.1:c.954T>C
  • NR_148693.2:n.1269T>C
  • p.Gly422Gly
Links:
dbSNP: rs5985637
NCBI 1000 Genomes Browser:
rs5985637
Molecular consequence:
  • NR_148693.2:n.1269T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001099922.3:c.1266T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001257230.2:c.954T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001257231.2:c.1032T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001257234.2:c.954T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001257237.2:c.954T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001324292.2:c.1266T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001324293.1:c.954T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000846884Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Benign
(Jun 22, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000846884.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 19, 2022