NM_000317.3(PTS):c.2T>G (p.Met1Arg) AND BH4-deficient hyperphenylalaninemia A

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001261645.1

Allele description [Variation Report for NM_000317.3(PTS):c.2T>G (p.Met1Arg)]

NM_000317.3(PTS):c.2T>G (p.Met1Arg)

Gene:
PTS:6-pyruvoyltetrahydropterin synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_000317.3(PTS):c.2T>G (p.Met1Arg)
HGVS:
  • NC_000011.10:g.112226445T>G
  • NG_008743.1:g.5081T>G
  • NM_000317.3:c.2T>GMANE SELECT
  • NP_000308.1:p.Met1Arg
  • NC_000011.9:g.112097168T>G
  • NM_000317.2:c.2T>G
Protein change:
M1R
Molecular consequence:
  • NM_000317.3:c.2T>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_000317.3:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
BH4-deficient hyperphenylalaninemia A
Synonyms:
HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTS DEFICIENCY; 6-pyruvoyl-tetrahydropterin synthase deficiency; Hyperphenylalanemia, BH4-deficient, A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009863; MedGen: C0878676; Orphanet: 13; Orphanet: 238583; OMIM: 261640

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001438944Pathology and Clinical Laboratory Medicine,King Fahad Medical Citycriteria provided, single submitter
Likely pathogenicgermlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Arabgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Pathology and Clinical Laboratory Medicine,King Fahad Medical City, SCV001438944.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 7, 2021

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