NM_000156.6(GAMT):c.182G>A (p.Gly61Glu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 27, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000480090.2

Allele description [Variation Report for NM_000156.6(GAMT):c.182G>A (p.Gly61Glu)]

NM_000156.6(GAMT):c.182G>A (p.Gly61Glu)

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.182G>A (p.Gly61Glu)
HGVS:
  • NC_000019.10:g.1399938C>T
  • NG_009785.1:g.6616G>A
  • NM_000156.6:c.182G>AMANE SELECT
  • NM_138924.3:c.182G>A
  • NP_000147.1:p.Gly61Glu
  • NP_620279.1:p.Gly61Glu
  • NC_000019.9:g.1399937C>T
  • NM_000156.4:c.182G>A
  • NM_000156.5:c.182G>A
Protein change:
G61E
Links:
dbSNP: rs77168423
NCBI 1000 Genomes Browser:
rs77168423
Molecular consequence:
  • NM_000156.6:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138924.3:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000569738GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 27, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000569738.4

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

Description

A variant of uncertain significance has been identified in the GAMT gene. The G61E variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 29/16548 (0.2%) alleles from individuals of East Asian background in large population cohorts (Lek et al., 2016). The G61E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Aug 27, 2021

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