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NM_000156.6(GAMT):c.471T>G (p.Phe157Leu) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 8, 2017
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:
RCV000611035.1

Allele description [Variation Report for NM_000156.6(GAMT):c.471T>G (p.Phe157Leu)]

NM_000156.6(GAMT):c.471T>G (p.Phe157Leu)

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.471T>G (p.Phe157Leu)
HGVS:
  • NC_000019.10:g.1399015A>C
  • NG_009785.1:g.7539T>G
  • NM_000156.6:c.471T>GMANE SELECT
  • NM_138924.3:c.471T>G
  • NP_000147.1:p.Phe157Leu
  • NP_620279.1:p.Phe157Leu
  • NC_000019.9:g.1399014A>C
  • NM_000156.4:c.471T>G
  • NM_000156.5:c.471T>G
Protein change:
F157L
Links:
dbSNP: rs372260609
NCBI 1000 Genomes Browser:
rs372260609
Molecular consequence:
  • NM_000156.6:c.471T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138924.3:c.471T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000731131GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Nov 8, 2017) 		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, SCV000731131.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024