NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 20, 2017
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:: RCV000089007.9

Allele description [Variation Report for NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)]

NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

Preferred name:

NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)

HGVS:

NC_000012.12:g.102855231T>C
NG_008690.2:g.108180A>G
NM_000277.3:c.611A>GMANE SELECT
NM_001354304.2:c.611A>G
NP_000268.1:p.Tyr204Cys
NP_001341233.1:p.Tyr204Cys
NC_000012.11:g.103249009T>C
NM_000277.1:c.611A>G
P00439:p.Tyr204Cys

Protein change:

Y204C; TYR204CYS

Links:

UniProtKB: P00439#VAR_000924; OMIM: 612349.0013; dbSNP: rs62514927

NCBI 1000 Genomes Browser:

rs62514927

Molecular consequence:

NM_000277.3:c.611A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354304.2:c.611A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000119611	DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE	no classification provided	not provided	not provided	not provided
SCV000329866	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jul 20, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000119611

DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE

no classification provided

not provided

SCV000329866

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jul 20, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE, SCV000119611.1

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

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

From GeneDx, SCV000329866.6

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

Description

The c.611 A>G variant in the PAH is a common pathogenic variant in Chinese patients with phenylketonuria (PKU) and is associated with a classic PKU phenotype (Lee et al., 2004; Yu et al., 2008; Chen et al., 2015). Functional analysis of c.611 A>G found that results in abnormal splicing and it is classified as a not responsive to tetrahydrobiopterin (BH4) therapy (Ellingsen et al., 1997; Sarkissian et al., 2012))

#	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: Apr 20, 2024

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