NM_000170.3(GLDC):c.2124_2126dup (p.Glu708_Asn709insLys) AND Non-ketotic hyperglycinemia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 2018
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:
RCV000673884.1

Allele description [Variation Report for NM_000170.3(GLDC):c.2124_2126dup (p.Glu708_Asn709insLys)]

NM_000170.3(GLDC):c.2124_2126dup (p.Glu708_Asn709insLys)

Gene:
GLDC:glycine decarboxylase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9p24.1
Genomic location:
Preferred name:
NM_000170.3(GLDC):c.2124_2126dup (p.Glu708_Asn709insLys)
HGVS:
  • NC_000009.12:g.6556230_6556232dup
  • NG_016397.1:g.94462_94464dup
  • NM_000170.3:c.2124_2126dupMANE SELECT
  • NP_000161.2:p.Glu708_Asn709insLys
  • LRG_643:g.94462_94464dup
  • NC_000009.11:g.6556230_6556232dup
  • NM_000170.2:c.2124_2126dupGAA
Links:
dbSNP: rs1554643929
NCBI 1000 Genomes Browser:
rs1554643929
Molecular consequence:
  • NM_000170.3:c.2124_2126dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Non-ketotic hyperglycinemia
Synonyms:
Glycine encephalopathy; Nonketotic hyperglycinemia
Identifiers:
MONDO: MONDO:0011612; MedGen: C0751748; Orphanet: 407; OMIM: PS605899; Human Phenotype Ontology: HP:0008288

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000799137Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Apr 11, 2018) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000799137.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024