NM_000317.3(PTS):c.108C>A (p.Asn36Lys) AND GTP cyclohydrolase I deficiency with hyperphenylalaninemia

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003983773.1

Allele description [Variation Report for NM_000317.3(PTS):c.108C>A (p.Asn36Lys)]

NM_000317.3(PTS):c.108C>A (p.Asn36Lys)

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.108C>A (p.Asn36Lys)

HGVS:

NC_000011.10:g.112228618C>A
NG_008743.1:g.7254C>A
NM_000317.3:c.108C>AMANE SELECT
NP_000308.1:p.Asn36Lys
NC_000011.9:g.112099341C>A
NM_000317.2:c.108C>A

Protein change:

N36K

Molecular consequence:

NM_000317.3:c.108C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: GTP cyclohydrolase I deficiency with hyperphenylalaninemia (HPABH4B)
Synonyms:: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO GTP CYCLOHYDROLASE I DEFICIENCY; Hyperphenylalaninemia, BH4-Deficient, B; Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency
Identifiers:: MONDO: MONDO:0100186; MedGen: CN305333; Orphanet: 2102; Orphanet: 238583; OMIM: 233910

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CMYA5 cardiomyopathy associated 5 [Canis lupus familiaris]
CMYA5 cardiomyopathy associated 5 [Canis lupus familiaris]
Gene ID:479170

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004800849	Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital	no assertion criteria provided (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004800849

Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital

no assertion criteria provided

(ACMG Guidelines, 2015)

Likely pathogenic

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Han	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PMC

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Details of each submission

From Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital, SCV004800849.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Han	1	not provided	not provided	clinical testing	not provided

Description

PM2+PM3+PP3+PP4

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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