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NM_001482.3(GATM):c.519A>G (p.Ile173Met) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 10, 2012
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:
RCV000187599.1

Allele description [Variation Report for NM_001482.3(GATM):c.519A>G (p.Ile173Met)]

NM_001482.3(GATM):c.519A>G (p.Ile173Met)

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.519A>G (p.Ile173Met)
Other names:
p.I173M:ATA>ATG
HGVS:
  • NC_000015.10:g.45368226T>C
  • NG_011674.2:g.39092A>G
  • NM_001321015.2:c.132A>G
  • NM_001482.3:c.519A>GMANE SELECT
  • NP_001307944.1:p.Ile44Met
  • NP_001473.1:p.Ile173Met
  • NC_000015.9:g.45660424T>C
  • NM_001482.2:c.519A>G
Protein change:
I173M
Links:
dbSNP: rs796052534
NCBI 1000 Genomes Browser:
rs796052534
Molecular consequence:
  • NM_001321015.2:c.132A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001482.3:c.519A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241194GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 10, 2012) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241194.10

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

Description

p.Ile173Met (ATA>ATG):c.519 A>G in exon 4 of the GATM gene (NM_001482.2). The Ile173Met missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Ile173Met in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is conservative, as both Isoleucine and Methionine are uncharged, non-polar amino acid. Ile173Met alters a position that is not well conserved, and multiple in silico models predict Ile173Met is likely benign. The information available at this time suggests that this variant is likely non-pathogenic; however, the possibility that it is a disease-associated mutation cannot be excluded. The variant is found in CHILD-EPI panel(s).

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

Last Updated: Apr 23, 2022