U.S. flag

An official website of the United States government

NM_000156.6(GAMT):c.472C>T (p.Arg158Cys) AND Deficiency of guanidinoacetate methyltransferase

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 28, 2019
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:
RCV001835058.1

Allele description [Variation Report for NM_000156.6(GAMT):c.472C>T (p.Arg158Cys)]

NM_000156.6(GAMT):c.472C>T (p.Arg158Cys)

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.472C>T (p.Arg158Cys)
HGVS:
  • NC_000019.10:g.1399014G>A
  • NG_009785.1:g.7540C>T
  • NM_000156.6:c.472C>TMANE SELECT
  • NM_138924.3:c.472C>T
  • NP_000147.1:p.Arg158Cys
  • NP_620279.1:p.Arg158Cys
  • NC_000019.9:g.1399013G>A
  • NM_000156.5:c.472C>T
Protein change:
R158C
Links:
dbSNP: rs758217156
NCBI 1000 Genomes Browser:
rs758217156
Molecular consequence:
  • NM_000156.6:c.472C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138924.3:c.472C>T - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002087027Natera, Inc.
no assertion criteria provided
Uncertain significance
(Oct 28, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002087027.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 25, 2024