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NM_000277.3(PAH):c.441T>C (p.Pro147=) AND Phenylketonuria

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 16, 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:
RCV001269065.1

Allele description [Variation Report for NM_000277.3(PAH):c.441T>C (p.Pro147=)]

NM_000277.3(PAH):c.441T>C (p.Pro147=)

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.441T>C (p.Pro147=)
HGVS:
  • NC_000012.12:g.102877462A>G
  • NG_008690.2:g.85949T>C
  • NM_000277.3:c.441T>CMANE SELECT
  • NM_001354304.2:c.441T>C
  • NP_000268.1:p.Pro147=
  • NP_001341233.1:p.Pro147=
  • NC_000012.11:g.103271240A>G
Links:
dbSNP: rs1386014129
NCBI 1000 Genomes Browser:
rs1386014129
Molecular consequence:
  • NM_000277.3:c.441T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354304.2:c.441T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001448288ClinGen PAH Variant Curation Expert Panel
reviewed by expert panel

(ClinGen PAH ACMG Specifications v1)		Uncertain significance
(Oct 16, 2020) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen PAH Variant Curation Expert Panel, SCV001448288.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.441T>C (p.Pro147=) PAH variant has been reported in 1 Chinese patient with mild hyperphenylalaninemia (PMID: 30459323) detected with the PAH variant of uncertain significance p.Arg53His. A defect in BH4 metabolism was not excluded. This variant is absent from population databases. It is a synonymous variant with conflicting predictions by splicing prediction algorithms. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP4.

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

Last Updated: Apr 23, 2022