NM_000277.3(PAH):c.520A>G (p.Ile174Val) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Pathogenic(1);Uncertain significance(1) (Last evaluated: Apr 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000088968.7

Allele description [Variation Report for NM_000277.3(PAH):c.520A>G (p.Ile174Val)]

NM_000277.3(PAH):c.520A>G (p.Ile174Val)

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.520A>G (p.Ile174Val)
Other names:
NM_000277.1(PAH):c.520A>G
HGVS:
  • NC_000012.12:g.102855322T>C
  • NG_008690.2:g.108089A>G
  • NM_000277.3:c.520A>GMANE SELECT
  • NM_001354304.2:c.520A>G
  • NP_000268.1:p.Ile174Val
  • NP_001341233.1:p.Ile174Val
  • NC_000012.11:g.103249100T>C
  • NM_000277.1:c.520A>G
  • P00439:p.Ile174Val
Protein change:
I174V
Links:
UniProtKB: P00439#VAR_011570; dbSNP: rs199475632
NCBI 1000 Genomes Browser:
rs199475632
Molecular consequence:
  • NM_000277.3:c.520A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.520A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119571DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTEno assertion providednot providednot providednot provided

SCV000203187EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Sep 29, 2015)
germlineclinical testing

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

Citation Link,

SCV001370959CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Apr 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Phenylketonuria mutations in Germany.

Zschocke J, Hoffmann GF.

Hum Genet. 1999 May;104(5):390-8.

PubMed [citation]
PMID:
10394930

Details of each submission

From DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE, SCV000119571.1

#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 EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000203187.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001370959.2

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

Last Updated: May 23, 2021

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