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NM_000277.3(PAH):c.1069T>G (p.Cys357Gly) AND Phenylketonuria

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 5, 2020
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV001199978.1

Allele description [Variation Report for NM_000277.3(PAH):c.1069T>G (p.Cys357Gly)]

NM_000277.3(PAH):c.1069T>G (p.Cys357Gly)

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.1069T>G (p.Cys357Gly)
HGVS:
  • NC_000012.12:g.102843776A>C
  • NG_008690.2:g.119635T>G
  • NM_000277.3:c.1069T>GMANE SELECT
  • NM_001354304.2:c.1069T>G
  • NP_000268.1:p.Cys357Gly
  • NP_001341233.1:p.Cys357Gly
  • NC_000012.11:g.103237554A>C
  • NM_000277.1:c.1069T>G
  • NM_000277.2(PAH):c.1069T>G
  • P00439:p.Cys357Gly
Protein change:
C357G
Links:
UniProtKB: P00439#VAR_011575; dbSNP: rs62508595
NCBI 1000 Genomes Browser:
rs62508595
Molecular consequence:
  • NM_000277.3:c.1069T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.1069T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Phenylketonuria (PKU)
Synonyms:
Phenylketonurias; Oligophrenia phenylpyruvica; Folling disease
Identifiers:
MONDO: MONDO:0009861; MedGen: C0031485; Orphanet: 716; OMIM: 261600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001370804ClinGen PAH Variant Curation Expert Panel
reviewed by expert panel

(ClinGen PAH ACMG Specifications v1)		Likely pathogenic
(Jun 5, 2020) 		germlinecuration

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.

Acosta AX, Silva WA Jr, Carvalho TM, Zago MA.

Hum Mutat. 2001;17(1):77.

PubMed [citation]
PMID:
11139255

Details of each submission

From ClinGen PAH Variant Curation Expert Panel, SCV001370804.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

The c.1069T>G (p.Cys357Gly) variant in PAH has been reported in 1 individual with classic PKU in trans with pathogenic variant p.R176X (PMID: 11139255). This variant is absent in population databases. Computational evidence supports a deleterious effect. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PM3, PP3.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022