NM_000156.6(GAMT):c.124A>G (p.Met42Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 15, 2024
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:: RCV000187586.3

Allele description [Variation Report for NM_000156.6(GAMT):c.124A>G (p.Met42Val)]

NM_000156.6(GAMT):c.124A>G (p.Met42Val)

Genes:

LOC130062945:ATAC-STARR-seq lymphoblastoid silent region 9707 [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.124A>G (p.Met42Val)

Other names:

p.M42V:ATG>GTG

HGVS:

NC_000019.10:g.1401353T>C
NG_009785.1:g.5201A>G
NM_000156.6:c.124A>GMANE SELECT
NM_138924.3:c.124A>G
NP_000147.1:p.Met42Val
NP_620279.1:p.Met42Val
NC_000019.9:g.1401352T>C
NM_000156.4:c.124A>G

Protein change:

M42V

Links:

dbSNP: rs536055494

NCBI 1000 Genomes Browser:

rs536055494

Molecular consequence:

NM_000156.6:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_138924.3:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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chitin-binding protein/carbohydrate-binding protein [Listeria welshimeri serovar...
chitin-binding protein/carbohydrate-binding protein [Listeria welshimeri serovar 6b str. SLCC5334]
gi|116742710|emb|CAK21834.1|

Protein
has1 [Cynoglossus semilaevis]
has1 [Cynoglossus semilaevis]
Gene ID:103388529

Gene
Gene Links for GEO Profiles (Select 91276359) (1)
Gene
SLAMF6 SLAM family member 6 [Homo sapiens]
SLAMF6 SLAM family member 6 [Homo sapiens]
Gene ID:114836

Gene
Profile neighbors for GEO Profiles (Select 91285280) (199)
GEO Profiles

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000241181	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 15, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000241181

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 15, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000241181.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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