NM_000156.6(GAMT):c.79T>C (p.Tyr27His) AND History of neurodevelopmental disorder

delete

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 3, 2018
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:: RCV000718439.2

Allele description

NM_000156.6(GAMT):c.79T>C (p.Tyr27His)

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.79T>C (p.Tyr27His)

Other names:

p.Y27H:TAC>CAC

HGVS:

NC_000019.10:g.1401398A>G
NG_009785.1:g.5156T>C
NM_000156.6:c.79T>CMANE SELECT
NM_138924.3:c.79T>C
NP_000147.1:p.Tyr27His
NP_000147.1:p.Tyr27His
NP_620279.1:p.Tyr27His
NC_000019.9:g.1401397A>G
NM_000156.4:c.79T>C
NM_000156.5:c.79T>C
Q14353:p.Tyr27His

Protein change:

Y27H

Links:

UniProtKB: Q14353#VAR_071776; dbSNP: rs200833152

NCBI 1000 Genomes Browser:

rs200833152

Molecular consequence:

NM_000156.6:c.79T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_138924.3:c.79T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: History of neurodevelopmental disorder
Identifiers:: MedGen: C2711754

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000849302	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Likely benign (Nov 3, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000849302

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Likely benign
(Nov 3, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Mercimek-Mahmutoglu S, Ndika J, Kanhai W, de Villemeur TB, Cheillan D, Christensen E, Dorison N, Hannig V, Hendriks Y, Hofstede FC, Lion-Francois L, Lund AM, Mundy H, Pitelet G, Raspall-Chaure M, Scott-Schwoerer JA, Szakszon K, Valayannopoulos V, Williams M, Salomons GS.

Hum Mutat. 2014 Apr;35(4):462-9. doi: 10.1002/humu.22511. Epub 2014 Mar 6.

PubMed [citation]

PMID:: 24415674

Details of each submission

From Ambry Genetics, SCV000849302.3

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

Description

Intact protein function observed by in vitro/ex vivo assays;Sub-population frequency in support of benign classification (not ava blue, manual h-w)

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

Last Updated: Nov 19, 2022

ClinVar

Relating variation to medicine