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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003693392	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 15, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 32421718, 33524012 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003693392

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 15, 2022)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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