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NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 24, 2017
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:
RCV001266572.10

Allele description [Variation Report for NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)]

NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)

Gene:
PURA:purine rich element binding protein A [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
HGVS:
  • NC_000005.10:g.140114872TTC[2]
  • NC_000005.9:g.139494456_139494458del
  • NG_041813.1:g.5750TTC[2]
  • NM_005859.5:c.690_692delCTT
  • NM_005859.5:c.691TTC[2]MANE SELECT
  • NP_005850.1:p.Phe233del
  • NC_000005.9:g.139494456_139494458del
  • NC_000005.9:g.139494456_139494458delCTT
  • NC_000005.9:g.139494457TTC[2]
  • NM_005859.4:c.697_699del
  • NM_005859.4:c.697_699delTTC
  • NM_005859.5:c.690_692delCTTMANE SELECT
  • NM_005859.5:c.697_699delMANE SELECT
  • p.F233del
Protein change:
F233del
Links:
OMIM: 600473.0008; dbSNP: rs786204835
NCBI 1000 Genomes Browser:
rs786204835
Molecular consequence:
  • NM_005859.5:c.691TTC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001444748Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Likely pathogenic
(Oct 24, 2017) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

De novo mutations in PURA are associated with hypotonia and developmental delay.

Tanaka AJ, Bai R, Cho MT, Anyane-Yeboa K, Ahimaz P, Wilson AL, Kendall F, Hay B, Moss T, Nardini M, Bauer M, Retterer K, Juusola J, Chung WK.

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000356. doi: 10.1101/mcs.a000356.

PubMed [citation]
PMID:
27148565
PMCID:
PMC4850890

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
See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV001444748.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jan 19, 2025