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NM_005859.5(PURA):c.7_11del (p.Asp3fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2015
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:
RCV000623804.2

Allele description [Variation Report for NM_005859.5(PURA):c.7_11del (p.Asp3fs)]

NM_005859.5(PURA):c.7_11del (p.Asp3fs)

Gene:
PURA:purine rich element binding protein A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_005859.5(PURA):c.7_11del (p.Asp3fs)
HGVS:
  • NC_000005.10:g.140114188_140114192del
  • NG_041813.1:g.5066_5070del
  • NM_005859.5:c.7_11delMANE SELECT
  • NP_005850.1:p.Asp3fs
  • NC_000005.9:g.139493773_139493777del
  • NM_005859.4:c.7_11delGACCG
Protein change:
D3fs
Links:
dbSNP: rs1554128999
NCBI 1000 Genomes Browser:
rs1554128999
Molecular consequence:
  • NM_005859.5:c.7_11del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741167Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Dec 1, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000741167.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jan 7, 2023