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NM_001482.3(GATM):c.1269C>G (p.Asp423Glu) AND History of neurodevelopmental disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 12, 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:
RCV000720354.1

Allele description

NM_001482.3(GATM):c.1269C>G (p.Asp423Glu)

Gene:
GATM:glycine amidinotransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_001482.3(GATM):c.1269C>G (p.Asp423Glu)
Other names:
NM_001482.3(GATM):c.1269C>G; p.Asp423Glu
HGVS:
  • NC_000015.10:g.45362112G>C
  • NG_011674.2:g.45206C>G
  • NM_001321015.2:c.882C>G
  • NM_001482.3:c.1269C>GMANE SELECT
  • NP_001307944.1:p.Asp294Glu
  • NP_001473.1:p.Asp423Glu
  • NC_000015.9:g.45654310G>C
  • NM_001482.2:c.1269C>G
Protein change:
D294E
Links:
dbSNP: rs1566838768
NCBI 1000 Genomes Browser:
rs1566838768
Molecular consequence:
  • NM_001321015.2:c.882C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001482.3:c.1269C>G - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000851231Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Sep 12, 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, SCV000851231.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.D423E variant (also known as c.1269C>G), located in coding exon 9 of the GATM gene, results from a C to G substitution at nucleotide position 1269. The aspartic acid at codon 423 is replaced by glutamic acid, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6496 samples (12992 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 19, 2022