NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Dec 17, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000088806.13

Allele description [Variation Report for NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)]

NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)

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.1223G>A (p.Arg408Gln)

Other names:

NM_000277.1(PAH):c.1223G>A

HGVS:

NC_000012.12:g.102840492C>T
NG_008690.2:g.122919G>A
NM_000277.3:c.1223G>AMANE SELECT
NM_001354304.2:c.1223G>A
NP_000268.1:p.Arg408Gln
NP_001341233.1:p.Arg408Gln
NC_000012.11:g.103234270C>T
NM_000277.1:c.1223G>A
NM_000277.2:c.1223G>A
P00439:p.Arg408Gln
c.1223G>A (p.Arg408Gln)

Protein change:

R408Q; ARG408GLN

Links:

UniProtKB: P00439#VAR_001034; OMIM: 612349.0038; dbSNP: rs5030859

NCBI 1000 Genomes Browser:

rs5030859

Molecular consequence:

NM_000277.3:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354304.2:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000119396	DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE	no classification provided	not provided	not provided	not provided
SCV000225501	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Jun 29, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 1312992, 1355066 Citation Link,
SCV002818166	Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 17, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000119396

DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE

no classification provided

not provided

SCV000225501

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Jun 29, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV002818166

Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 17, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	5	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics.

Eiken HG, Stangeland K, Skjelkvåle L, Knappskog PM, Boman H, Apold J.

Hum Genet. 1992 Mar;88(6):608-12.

PubMed [citation]

PMID:: 1312992

Identification of a missense phenylketonuria mutation at codon 408 in Chinese.

Lin CH, Hsiao KJ, Tsai TF, Chao HK, Su TS.

Hum Genet. 1992 Aug;89(6):593-6.

PubMed [citation]

PMID:: 1355066

See all PubMed Citations (3)

Details of each submission

From DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE, SCV000119396.1

#	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 Eurofins Ntd Llc (ga), SCV000225501.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	PubMed (2)

#	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		5	not provided	not provided	not provided

From Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital, SCV002818166.1

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

#	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: Oct 13, 2024

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