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NM_000317.3(PTS):c.155A>G (p.Asn52Ser) AND PTS-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 20, 2023
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:
RCV003924789.2

Allele description [Variation Report for NM_000317.3(PTS):c.155A>G (p.Asn52Ser)]

NM_000317.3(PTS):c.155A>G (p.Asn52Ser)

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.155A>G (p.Asn52Ser)
HGVS:
  • NC_000011.10:g.112228665A>G
  • NG_008743.1:g.7301A>G
  • NM_000317.3:c.155A>GMANE SELECT
  • NP_000308.1:p.Asn52Ser
  • NC_000011.9:g.112099388A>G
  • NM_000317.2:c.155A>G
  • Q03393:p.Asn52Ser
Protein change:
N52S; ASN52SER
Links:
UniProtKB: Q03393#VAR_006821; OMIM: 612719.0004; dbSNP: rs104894275
NCBI 1000 Genomes Browser:
rs104894275
Molecular consequence:
  • NM_000317.3:c.155A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PTS-related disorder
Synonyms:
PTS-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004740073PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Nov 20, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004740073.2

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

Description

The PTS c.155A>G variant is predicted to result in the amino acid substitution p.Asn52Ser. This variant has been reported in the homozygous state or with a second PTS variant in patients with 6-pyruvoyltetrahydropterin syntase (PTPS) deficiency syndrome (for example, see Leuzzi et al. 2010. PubMed ID: 20059486; Almannai et al. 2019. PubMed ID: 30926181; Manzoni et al. 2020. PubMed ID: 33234470). This variant is one of the most commonly reported causative variants for PTPS deficiency in Asian populations (Liu and Hsiao 1996. PubMed ID: 8707300; Liu et al. 2001. PubMed ID: 11694255; Chiu et al. 2012. PubMed ID: 22237589). This variant is reported in 0.14% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-112099388-A-G). This variant is interpreted as pathogenic.

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

Last Updated: Nov 24, 2024