NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 29, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000088771.5

Allele description [Variation Report for NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)]

NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)

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.1157A>G (p.Tyr386Cys)
Other names:
p.Y386C:TAT>TGT
HGVS:
  • NC_000012.12:g.102843688T>C
  • NG_008690.2:g.119723A>G
  • NM_000277.3:c.1157A>GMANE SELECT
  • NM_001354304.2:c.1157A>G
  • NP_000268.1:p.Tyr386Cys
  • NP_001341233.1:p.Tyr386Cys
  • NC_000012.11:g.103237466T>C
  • NM_000277.1:c.1157A>G
  • P00439:p.Tyr386Cys
Protein change:
Y386C
Links:
UniProtKB: P00439#VAR_001023; dbSNP: rs62516141
NCBI 1000 Genomes Browser:
rs62516141
Molecular consequence:
  • NM_000277.3:c.1157A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.1157A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119356DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTEno assertion providednot providednot providednot provided

SCV000239087GeneDxcriteria provided, single submitter
Pathogenic
(Jun 29, 2020)
germlineclinical testing

Citation Link

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, SCV000119356.1

#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, SCV000239087.12

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 24941924, 24350308, 16765994, 22841515, 17924342, 29499199, 25087612, 26210745, 8533759, 11385716, 23357515, 11696894, 24368688, 23430918, 12655553, 23074961, 10394930, 9634518, 18493213, 16198137, 32668217)

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

Last Updated: Nov 27, 2021

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