NM_005859.5(PURA):c.496C>T (p.Arg166Cys) AND Mental retardation, autosomal dominant 31

Clinical significance:Likely pathogenic (Last evaluated: Jun 1, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000578340.1

Allele description [Variation Report for NM_005859.5(PURA):c.496C>T (p.Arg166Cys)]

NM_005859.5(PURA):c.496C>T (p.Arg166Cys)

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.496C>T (p.Arg166Cys)
HGVS:
  • NC_000005.10:g.140114677C>T
  • NG_041813.1:g.5555C>T
  • NM_005859.5:c.496C>TMANE SELECT
  • NP_005850.1:p.Arg166Cys
  • NC_000005.9:g.139494262C>T
  • NM_005859.4:c.496C>T
Protein change:
R166C
Links:
dbSNP: rs1554129096
NCBI 1000 Genomes Browser:
rs1554129096
Molecular consequence:
  • NM_005859.5:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mental retardation, autosomal dominant 31 (NEDRIHF)
Synonyms:
NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
Identifiers:
MONDO: MONDO:0018580; MedGen: C4015357; Orphanet: 438216; OMIM: 616158

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000680112Molecular Genetics Laboratory,BC Children's and BC Women's Hospitalsno assertion criteria provided
Likely pathogenic
(Jun 1, 2017)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot 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 Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals, SCV000680112.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 20, 2021

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