NM_000277.3(PAH):c.204A>T (p.Arg68Ser) AND not provided

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Jun 1, 2024
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:: RCV000078517.38

Allele description [Variation Report for NM_000277.3(PAH):c.204A>T (p.Arg68Ser)]

NM_000277.3(PAH):c.204A>T (p.Arg68Ser)

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.204A>T (p.Arg68Ser)

HGVS:

NC_000012.12:g.102894883T>A
NG_008690.2:g.68528A>T
NM_000277.3:c.204A>TMANE SELECT
NM_001354304.2:c.204A>T
NP_000268.1:p.Arg68Ser
NP_000268.1:p.Arg68Ser
NP_001341233.1:p.Arg68Ser
NC_000012.11:g.103288661T>A
NM_000277.1:c.204A>T
P00439:p.Arg68Ser

Protein change:

R68S

Links:

UniProtKB: P00439#VAR_000885; dbSNP: rs76394784

NCBI 1000 Genomes Browser:

rs76394784

Molecular consequence:

NM_000277.3:c.204A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354304.2:c.204A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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lysozyme [Shewanella sp. phage 1/41]
lysozyme [Shewanella sp. phage 1/41]
gi|587757943|gb|AHK11672.1|

Protein
hypothetical protein CR3_210 [Cronobacter phage CR3]
hypothetical protein CR3_210 [Cronobacter phage CR3]
gi|383395951|gb|AFH21375.1|

Protein
hypothetical protein NMBB_1167 [Neisseria meningitidis alpha710]
hypothetical protein NMBB_1167 [Neisseria meningitidis alpha710]
gi|308389198|gnl|cebbi|NMBB_1167|gb 1518.1|

Protein
hypothetical protein BJP26_12785 [Sphingomonas melonis TY]
hypothetical protein BJP26_12785 [Sphingomonas melonis TY]
gi|1078698161|gnl|PRJNA345324|BJP26 5|gb|AOW24339.1|

Protein
platelet-derived growth factor receptor beta isoform 2 precursor [Mus musculus]
platelet-derived growth factor receptor beta isoform 2 precursor [Mus musculus]
gi|226371752|ref|NP_032835.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000110373	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Nov 13, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 1301187, 23500595 Citation Link,
SCV000119467	DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE	no classification provided	not provided	not provided	not provided
SCV000888347	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Aug 12, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001250397	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Jun 1, 2024)	germline	clinical testing	Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	7	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

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.

Eisensmith RC, Woo SL.

Hum Mutat. 1992;1(1):13-23. Review.

PubMed [citation]

PMID:: 1301187

Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.

Couce ML, Bóveda MD, Fernández-Marmiesse A, Mirás A, Pérez B, Desviat LR, Fraga JM.

Gene. 2013 May 25;521(1):100-4. doi: 10.1016/j.gene.2013.03.004. Epub 2013 Mar 14.

PubMed [citation]

PMID:: 23500595

See all PubMed Citations (3)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000110373.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	7	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		7	not provided	not provided	not provided

From DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE, SCV000119467.1

#	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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888347.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV001250397.25

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

Description

PAH: PM3:Very Strong, PM2, PM5, PS3:Moderate

#	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		2	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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