NM_005859.5(PURA):c.4_8del (p.Ala2fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2016
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:: RCV000172940.2

Allele description [Variation Report for NM_005859.5(PURA):c.4_8del (p.Ala2fs)]

NM_005859.5(PURA):c.4_8del (p.Ala2fs)

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.4_8del (p.Ala2fs)

HGVS:

NC_000005.10:g.140114185_140114189del
NG_041813.1:g.5063_5067del
NM_005859.5:c.4_8delMANE SELECT
NP_005850.1:p.Ala2fs
NC_000005.9:g.139493770_139493774del
NM_005859.4:c.4_8delGCGGA
p.A2PfsX197

Protein change:

A2fs

Links:

dbSNP: rs793888537

NCBI 1000 Genomes Browser:

rs793888537

Molecular consequence:

NM_005859.5:c.4_8del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000223989	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Nov 1, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000223989

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Nov 1, 2016)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000223989.7

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

Description

The c.4_8delGCGGA mutation in the PURA gene has not been reported previously as a disease causing variant nor as a benign polymorphism, to our knowledge. The c.4_8delGCGGA mutation causes a frameshift starting with codon Alanine 2, changes this amino acid to a Proline residue and creates a premature Stop codon at position 197 of the new reading frame, denoted p.Ala2ProfsX197. This mutation is predicted to cause loss of normal protein function through protein truncation. The c.4_8delGCGGA mutation was not observed in approximately 1800 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.4_8delGCGGA as a disease causing variant. This variant has been observed de novo with confirmed parentage.

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

Last Updated: Apr 23, 2022

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