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NM_000277.3(PAH):c.730C>T (p.Pro244Ser) AND Phenylketonuria

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 7, 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:
RCV001789819.1

Allele description [Variation Report for NM_000277.3(PAH):c.730C>T (p.Pro244Ser)]

NM_000277.3(PAH):c.730C>T (p.Pro244Ser)

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.730C>T (p.Pro244Ser)
Other names:
NM_000277.1:c.730C>T
HGVS:
  • NC_000012.12:g.102852927G>A
  • NG_008690.2:g.110484C>T
  • NM_000277.3:c.730C>TMANE SELECT
  • NM_001354304.2:c.730C>T
  • NP_000268.1:p.Pro244Ser
  • NP_001341233.1:p.Pro244Ser
  • NC_000012.11:g.103246705G>A
Protein change:
P244S
Links:
dbSNP: rs2136646392
NCBI 1000 Genomes Browser:
rs2136646392
Molecular consequence:
  • NM_000277.3:c.730C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.730C>T - 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
SCV002032204ClinGen PAH Variant Curation Expert Panel
reviewed by expert panel

(ClinGen PAH ACMG Specifications v1)		Likely pathogenic
(Aug 7, 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

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.

Bayat A, Yasmeen S, Lund A, Nielsen JB, Møller LB.

Clin Genet. 2016 Sep;90(3):247-51. doi: 10.1111/cge.12692. Epub 2015 Dec 12.

PubMed [citation]
PMID:
26542770

Details of each submission

From ClinGen PAH Variant Curation Expert Panel, SCV002032204.1

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

Description

The c.730C>T (p.Pro244Ser) variant in PAH has been reported in 1 individual with classic PKU, detected in trans with pathogenic variant p.R158Q (PMID: 26542770). 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: Dec 24, 2023