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NM_005859.5(PURA):c.596G>C (p.Arg199Pro) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 15, 2014
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:
RCV000144531.10

Allele description [Variation Report for NM_005859.5(PURA):c.596G>C (p.Arg199Pro)]

NM_005859.5(PURA):c.596G>C (p.Arg199Pro)

Gene:
PURA:purine rich element binding protein A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_005859.5(PURA):c.596G>C (p.Arg199Pro)
HGVS:
  • NC_000005.10:g.140114777G>C
  • NG_041813.1:g.5655G>C
  • NM_005859.5:c.596G>CMANE SELECT
  • NP_005850.1:p.Arg199Pro
  • NC_000005.9:g.139494362G>C
  • NM_005859.4:c.596G>C
  • Q00577:p.Arg199Pro
Protein change:
R199P
Links:
UniProtKB: Q00577#VAR_072703; dbSNP: rs587783001
NCBI 1000 Genomes Browser:
rs587783001
Molecular consequence:
  • NM_005859.5:c.596G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
Name:
Neonatal hypotonia
Identifiers:
MedGen: C2267233; Human Phenotype Ontology: HP:0001319

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000189123Whole genome laboratory; Baylor College of Medicine - Clinical exome sequencing test
no assertion criteria provided
Pathogenic
(Sep 15, 2014) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Whole genome laboratory; Baylor College of Medicine - Clinical exome sequencing test, SCV000189123.1

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

Last Updated: Nov 30, 2024