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NM_000156.6(GAMT):c.522G>A (p.Trp174Ter) AND GAMT-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 18, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003907657.2

Allele description [Variation Report for NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)]

NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)

Gene:
GAMT:guanidinoacetate N-methyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)
Other names:
p.W174*:TGG>TGA; NM_000156.6(GAMT):c.522G>A; p.Trp174Ter
HGVS:
  • NC_000019.10:g.1398964C>T
  • NG_009785.1:g.7590G>A
  • NM_000156.6:c.522G>AMANE SELECT
  • NM_138924.3:c.522G>A
  • NP_000147.1:p.Trp174Ter
  • NP_620279.1:p.Trp174Ter
  • NC_000019.9:g.1398963C>T
  • NM_000156.4:c.522G>A
  • NM_000156.5:c.522G>A
  • NM_138924.1:c.522G>A
Protein change:
W174*; TRP174TER
Links:
OMIM: 601240.0007; dbSNP: rs370421531
NCBI 1000 Genomes Browser:
rs370421531
Molecular consequence:
  • NM_000156.6:c.522G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_138924.3:c.522G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
GAMT-related disorder
Synonyms:
GAMT-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004721824PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Oct 18, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004721824.2

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

Description

The GAMT c.522G>A variant is predicted to result in premature protein termination (p.Trp174*). This variant was reported in the compound heterozygous in multiple individuals with guanidinoacetate methyltransferase deficiency (see, for example, Morris et al. 2007. PubMed ID: 17171576; Dhar et al. 2008. PubMed ID: 19027335). This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-1398963-C-T). Nonsense variants in GAMT are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Oct 13, 2024