NM_000156.6(GAMT):c.509A>C (p.Asn170Thr) AND Deficiency of guanidinoacetate methyltransferase

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 10, 2020
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:: RCV001830817.1

Allele description [Variation Report for NM_000156.6(GAMT):c.509A>C (p.Asn170Thr)]

NM_000156.6(GAMT):c.509A>C (p.Asn170Thr)

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.509A>C (p.Asn170Thr)

HGVS:

NC_000019.10:g.1398977T>G
NG_009785.1:g.7577A>C
NM_000156.6:c.509A>CMANE SELECT
NM_138924.3:c.509A>C
NP_000147.1:p.Asn170Thr
NP_620279.1:p.Asn170Thr
NC_000019.9:g.1398976T>G
NM_000156.5:c.509A>C

Protein change:

N170T

Links:

dbSNP: rs202199674

NCBI 1000 Genomes Browser:

rs202199674

Molecular consequence:

NM_000156.6:c.509A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_138924.3:c.509A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Deficiency of guanidinoacetate methyltransferase (CCDS2)
Synonyms:: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
Identifiers:: MONDO: MONDO:0012999; MedGen: C0574080; Orphanet: 382; OMIM: 612736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002087021	Natera, Inc.	no assertion criteria provided	Uncertain significance (Aug 10, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002087021

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Aug 10, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002087021.1

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

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

Last Updated: Sep 29, 2024

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