NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 30, 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:: RCV000487744.1

Allele description

NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs)

Gene:

PRPF8:pre-mRNA processing factor 8 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17p13.3

Genomic location:

Preferred name:

NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs)

HGVS:

NC_000017.11:g.1650844dup
NG_009118.1:g.39043dup
NG_033061.1:g.4259dup
NM_006445.4:c.6970dup
NP_006436.3:p.Glu2324fs
NC_000017.10:g.1554138dup

Links:

dbSNP: rs1064797215

NCBI 1000 Genomes Browser:

rs1064797215

Molecular consequence:

NM_006445.4:c.6970dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000575077	CeGaT Praxis fuer Humangenetik Tuebingen	criteria provided, single submitter (Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)	Likely pathogenic (Nov 30, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000575077

CeGaT Praxis fuer Humangenetik Tuebingen

criteria provided, single submitter

(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)

Likely pathogenic
(Nov 30, 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	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000575077.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	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		2	not provided	not provided	not provided

Last Updated: Nov 2, 2019

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