NM_000277.3(PAH):c.1076C>G (p.Ser359Ter) AND Phenylketonuria

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 1993
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000000658.3

Allele description

NM_000277.3(PAH):c.1076C>G (p.Ser359Ter)

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.1076C>G (p.Ser359Ter)

HGVS:

NC_000012.12:g.102843769G>C
NG_008690.2:g.119642C>G
NM_000277.3:c.1076C>GMANE SELECT
NM_001354304.2:c.1076C>G
NP_000268.1:p.Ser359Ter
NP_001341233.1:p.Ser359Ter
NC_000012.11:g.103237547G>C
NM_000277.1:c.1076C>G

Protein change:

S359*; SER359TER

Links:

OMIM: 612349.0052; dbSNP: rs5030854

NCBI 1000 Genomes Browser:

rs5030854

Molecular consequence:

NM_000277.3:c.1076C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354304.2:c.1076C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Phenylketonuria (PKU)
Synonyms:: Phenylketonurias; Oligophrenia phenylpyruvica; Folling disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009861; MedGen: C0751434; Orphanet: 716; OMIM: 261600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000020808	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1993)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020808

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 1993)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.

Dianzani I, Camaschella C, Saglio G, Ferrero GB, Ramus S, Ponzone A, Cotton RG.

J Med Genet. 1993 Mar;30(3):228-31.

PubMed [citation]

PMID:: 8097261
PMCID:: PMC1016305

Details of each submission

From OMIM, SCV000020808.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Using a modified application of the chemical cleavage of mismatch (CCM) method to screen exons 9, 10, and 11 of the PAH gene in 17 Italian patients with phenylketonuria (PKU; 261600), Dianzani et al. (1993) found a nonsense heterozygous C-to-G transversion in exon 11 in 1 patient. The change caused a ser-to-ter substitution at amino acid 359 (S359X).

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

Last Updated: Jul 3, 2020

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