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NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 30, 2017
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:
RCV002451147.9

Allele description [Variation Report for NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del)]

NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del)

Gene:
ALG13:ALG13 UDP-N-acetylglucosaminyltransferase subunit [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del)
HGVS:
  • NC_000023.11:g.111730406GAA[1]
  • NG_016238.1:g.54289GAA[1]
  • NM_001099922.3:c.2380GAA[1]MANE SELECT
  • NM_001257230.2:c.2068GAA[1]
  • NM_001257231.2:c.2146GAA[1]
  • NM_001257234.2:c.2068GAA[1]
  • NM_001257237.2:c.2068GAA[1]
  • NM_001324292.2:c.2380GAA[1]
  • NM_001324293.1:c.1894GAA[1]
  • NP_001093392.1:p.Glu795del
  • NP_001244159.1:p.Glu691del
  • NP_001244160.1:p.Glu717del
  • NP_001244163.1:p.Glu691del
  • NP_001244166.1:p.Glu691del
  • NP_001311221.1:p.Glu795del
  • NP_001311222.1:p.Glu633del
  • NC_000023.10:g.110973634GAA[1]
  • NC_000023.10:g.110973634_110973636del
  • NM_001099922.2:c.2383_2385delGAA
  • NM_001099922.3:c.2380GAA[1]
  • NR_148693.2:n.2108GAA[1]
Protein change:
E633del
Links:
dbSNP: rs772766102
NCBI 1000 Genomes Browser:
rs772766102
Molecular consequence:
  • NM_001099922.3:c.2380GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001257230.2:c.2068GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001257231.2:c.2146GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001257234.2:c.2068GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001257237.2:c.2068GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001324292.2:c.2380GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001324293.1:c.1894GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NR_148693.2:n.2108GAA[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002738379Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 30, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002738379.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2025