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NM_005859.5(PURA):c.640G>T (p.Glu214Ter) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 28, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000786859.2

Allele description [Variation Report for NM_005859.5(PURA):c.640G>T (p.Glu214Ter)]

NM_005859.5(PURA):c.640G>T (p.Glu214Ter)

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.640G>T (p.Glu214Ter)
HGVS:
  • NC_000005.10:g.140114821G>T
  • NG_041813.1:g.5699G>T
  • NM_005859.5:c.640G>TMANE SELECT
  • NP_005850.1:p.Glu214Ter
  • NC_000005.9:g.139494406G>T
Protein change:
E214*
Links:
dbSNP: rs1581036558
NCBI 1000 Genomes Browser:
rs1581036558
Molecular consequence:
  • NM_005859.5:c.640G>T - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]
Observations:
1

Condition(s)

Name:
Apnea
Identifiers:
MedGen: C0003578; Human Phenotype Ontology: HP:0002104
Name:
Generalized hypotonia
Identifiers:
MedGen: C1858120; Human Phenotype Ontology: HP:0001290
Name:
Limb dystonia
Identifiers:
MedGen: C0751093; Human Phenotype Ontology: HP:0002451

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000925239Breda Genetics srl
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 28, 2019) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
unknownunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Breda Genetics srl, SCV000925239.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1unknown1not providednot providedclinical testing PubMed (1)

Description

This variant introduces a premature stop codon at amino acid position Glu214, which may result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). This variant is not reported in dbSNP, gnomAD, 1000 Genomes, or NHLI Exome Sequencing Project (ESP). Pathogenic nonsense mutations in the PURA gene have been previously reported (ClinVar). Almost all pathogenic variants thus far reported are de novo (Reijnders et al., 2017, PMID: 28448108).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 5, 2024