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NM_000156.6(GAMT):c.526G>T (p.Glu176Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 19, 2020
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:
RCV000187571.2

Allele description [Variation Report for NM_000156.6(GAMT):c.526G>T (p.Glu176Ter)]

NM_000156.6(GAMT):c.526G>T (p.Glu176Ter)

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.526G>T (p.Glu176Ter)
Other names:
p.E176*:GAG>TAG
HGVS:
  • NC_000019.10:g.1398960C>A
  • NG_009785.1:g.7594G>T
  • NM_000156.6:c.526G>TMANE SELECT
  • NM_138924.3:c.526G>T
  • NP_000147.1:p.Glu176Ter
  • NP_620279.1:p.Glu176Ter
  • NC_000019.9:g.1398959C>A
  • NM_000156.4:c.526G>T
  • NM_138924.1:c.526G>T
Protein change:
E176*
Links:
dbSNP: rs796052525
NCBI 1000 Genomes Browser:
rs796052525
Molecular consequence:
  • NM_000156.6:c.526G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_138924.3:c.526G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241165GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Jun 19, 2020) 		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, SCV000241165.12

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

Description

Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 61 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 29, 2024