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NM_005859.4(PURA):c.697_699delTTC (p.Phe233del) AND Mental retardation, autosomal dominant 31

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 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:
RCV000169739.5

Allele description

NM_005859.4(PURA):c.697_699delTTC (p.Phe233del)

Gene:
PURA:purine rich element binding protein A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_005859.4(PURA):c.697_699delTTC (p.Phe233del)
HGVS:
  • NC_000005.10:g.140114878_140114880delTTC
  • NG_041813.1:g.5756_5758delTTC
  • NM_005859.4:c.697_699delTTC
  • NP_005850.1:p.Phe233del
  • NC_000005.9:g.139494463_139494465delTTC
  • p.F233del
Protein change:
F233del
Links:
OMIM: 600473.0008; dbSNP: rs786204835
NCBI 1000 Genomes Browser:
rs786204835
Molecular consequence:
  • NM_005859.4:c.697_699delTTC - inframe_variant - [Sequence Ontology: SO:0001650]

Condition(s)

Name:
Mental retardation, autosomal dominant 31 (MRD31)
Identifiers:
MedGen: C4015357; Orphanet: 438216; OMIM: 616158

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000221281OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2014) 		germlineliterature only

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

Tanaka, A. J., Bai, R., Cho, M. T., Anyane-Yeboa, K., Ahimaz, P., Wilson, A. L., Kendall, F., Hay, B., Moss, T., Nardini, M., Bauer, M., Retterer, K., Juusola, J., Chung, W. K. De novo mutations in PURA are associated with hypotonia and developmental delay. Cold Spring Harbor Molec. Case Studies 1: a000356, 2015. Note: Electronic Article.

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M; DDD study., Magee AC, Turnpenny PD, Baralle D.

J Med Genet. 2014 Dec;51(12):806-13. doi: 10.1136/jmedgenet-2014-102798. Epub 2014 Oct 23.

PubMed [citation]
PMID:
25342064
PMCID:
PMC4251168

Details of each submission

From OMIM, SCV000221281.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 6-year-old girl (patient 4) with autosomal dominant mental retardation-31 (MRD31; 616158), Hunt et al. (2014) identified a de novo heterozygous 3-bp deletion (c.697_699delTTC, NM_005859.4), resulting in the deletion of a highly conserved residue (Phe233del) in the Pur repeat III domain. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant were not performed.

Tanaka et al. (2015) identified a de novo heterozygous c.697_699delTTC mutation in a 6-month-old girl with MRD31. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP, 1000 Genomes Project, Exome Sequencing Project, or ExAC databases. Functional studies of the variant were not performed.

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

Last Updated: Dec 19, 2017