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NM_000170.3(GLDC):c.2126A>G (p.Asn709Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 15, 2022
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:
RCV002528902.2

Allele description [Variation Report for NM_000170.3(GLDC):c.2126A>G (p.Asn709Ser)]

NM_000170.3(GLDC):c.2126A>G (p.Asn709Ser)

Gene:
GLDC:glycine decarboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.1
Genomic location:
Preferred name:
NM_000170.3(GLDC):c.2126A>G (p.Asn709Ser)
HGVS:
  • NC_000009.12:g.6556229T>C
  • NG_016397.1:g.94464A>G
  • NM_000170.3:c.2126A>GMANE SELECT
  • NP_000161.2:p.Asn709Ser
  • NP_000161.2:p.Asn709Ser
  • LRG_643t1:c.2126A>G
  • LRG_643:g.94464A>G
  • LRG_643p1:p.Asn709Ser
  • NC_000009.11:g.6556229T>C
  • NM_000170.2:c.2126A>G
Protein change:
N709S
Links:
dbSNP: rs150943866
NCBI 1000 Genomes Browser:
rs150943866
Molecular consequence:
  • NM_000170.3:c.2126A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003693392Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 15, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.

Farris J, Calhoun B, Alam MS, Lee S, Haldar K.

PLoS Comput Biol. 2020 May;16(5):e1007871. doi: 10.1371/journal.pcbi.1007871.

PubMed [citation]
PMID:
32421718
PMCID:
PMC7259800

Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.

Farris J, Alam MS, Rajashekara AM, Haldar K.

PLoS Genet. 2021 Feb;17(2):e1009307. doi: 10.1371/journal.pgen.1009307.

PubMed [citation]
PMID:
33524012
PMCID:
PMC7850488

Details of each submission

From Ambry Genetics, SCV003693392.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The c.2126A>G (p.N709S) alteration is located in exon 18 (coding exon 18) of the GLDC gene. This alteration results from a A to G substitution at nucleotide position 2126, causing the asparagine (N) at amino acid position 709 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024