NM_005859.5(PURA):c.641_645dup (p.Ala216fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 18, 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:: RCV001265803.3

Allele description [Variation Report for NM_005859.5(PURA):c.641_645dup (p.Ala216fs)]

NM_005859.5(PURA):c.641_645dup (p.Ala216fs)

Gene:

PURA:purine rich element binding protein A [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

5q31.3

Genomic location:

Preferred name:

NM_005859.5(PURA):c.641_645dup (p.Ala216fs)

HGVS:

NC_000005.10:g.140114822_140114826dup
NG_041813.1:g.5700_5704dup
NM_005859.5:c.641_645dupMANE SELECT
NP_005850.1:p.Ala216fs
NC_000005.9:g.139494407_139494411dup
NM_005859.4:c.641_645dupAGCCG

Protein change:

A216fs

Links:

dbSNP: rs1763052510

NCBI 1000 Genomes Browser:

rs1763052510

Molecular consequence:

NM_005859.5:c.641_645dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001443975	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Dec 18, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001443975

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Dec 18, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001443975.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.641_645dupAGCCG pathogenic mutation, located in coding exon 1 of the PURA gene, results from a duplication of AGCCG at nucleotide position 641, causing a translational frameshift with a predicted alternate stop codon (p.A216Sfs*11). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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