NM_000156.6(GAMT):c.379G>A (p.Gly127Ser) AND Deficiency of guanidinoacetate methyltransferase

Clinical significance:Likely benign (Last evaluated: Sep 16, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001272272.1

Allele description [Variation Report for NM_000156.6(GAMT):c.379G>A (p.Gly127Ser)]

NM_000156.6(GAMT):c.379G>A (p.Gly127Ser)

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.379G>A (p.Gly127Ser)
Other names:
p.G127S:GGT>AGT
HGVS:
  • NC_000019.10:g.1399536C>T
  • NG_009785.1:g.7018G>A
  • NM_000156.6:c.379G>AMANE SELECT
  • NM_138924.3:c.379G>A
  • NP_000147.1:p.Gly127Ser
  • NP_620279.1:p.Gly127Ser
  • NC_000019.9:g.1399535C>T
  • NM_000156.4:c.379G>A
  • NM_000156.5:c.379G>A
Protein change:
G127S
Links:
dbSNP: rs570476209
NCBI 1000 Genomes Browser:
rs570476209
Molecular consequence:
  • NM_000156.6:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138924.3:c.379G>A - 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

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001454103Natera, Inc.no assertion criteria providedLikely benign
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001454103.1

#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: May 27, 2021

Support Center