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NM_000277.3(PAH):c.158G>A (p.Arg53His) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

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Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000088842.5

Allele description [Variation Report for NM_000277.3(PAH):c.158G>A (p.Arg53His)]

NM_000277.3(PAH):c.158G>A (p.Arg53His)

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.158G>A (p.Arg53His)
Other names:
NM_000277.2(PAH):c.158G>A
HGVS:
  • NC_000012.12:g.102912801C>T
  • NG_008690.2:g.50610G>A
  • NM_000277.3:c.158G>AMANE SELECT
  • NM_001354304.2:c.158G>A
  • NP_000268.1:p.Arg53His
  • NP_001341233.1:p.Arg53His
  • NC_000012.11:g.103306579C>T
  • NM_000277.1:c.158G>A
  • NM_000277.2:c.158G>A
  • P00439:p.Arg53His
Protein change:
R53H
Links:
UniProtKB: P00439#VAR_000878; dbSNP: rs118092776
NCBI 1000 Genomes Browser:
rs118092776
Molecular consequence:
  • NM_000277.3:c.158G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.158G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000119435DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE
no assertion provided
not providednot providednot provided

SCV000239059GeneDx
criteria provided, single submitter
Uncertain significance
(Apr 30, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE, SCV000119435.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From GeneDx, SCV000239059.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported primarily in association with a mild hyperphenylalaninemia (HPA) phenotype (Dateki et al., 2016; Polak et al., 2013; Tao et al., 2015; Zhu et al., 2013); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30747360, 17924342, 25087612, 27264808, 26666653, 28676969, 20981092, 24082139, 26521805, 27173423, 23764561, 26322415, 9452061, 17935162, 23932990, 29653233, 29499199, 29032371, 30512147, 30459323, 28982351, 29454221, 30050108, 29390883, 29353259, 24401910, 30945278, 31355225, 30275481, 32668217)

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

Last Updated: Nov 25, 2023