NM_001034853.2(RPGR):c.2254del (p.Glu752fs) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 28, 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:: RCV000456030.4

Allele description [Variation Report for NM_001034853.2(RPGR):c.2254del (p.Glu752fs)]

NM_001034853.2(RPGR):c.2254del (p.Glu752fs)

Gene:

RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp11.4

Genomic location:

Preferred name:

NM_001034853.2(RPGR):c.2254del (p.Glu752fs)

HGVS:

NC_000023.11:g.38286746del
NG_009553.1:g.45791del
NM_000328.3:c.1905+349del
NM_001034853.2:c.2254delMANE SELECT
NM_001367245.1:c.1902+349del
NM_001367246.1:c.1719+349del
NM_001367247.1:c.1572+4214del
NM_001367248.1:c.1602+4214del
NM_001367249.1:c.1569+4214del
NM_001367250.1:c.1569+4214del
NM_001367251.1:c.1386+4214del
NP_001030025.1:p.Glu752fs
NC_000023.10:g.38145998delC
NC_000023.10:g.38145999del
NM_001034853.1:c.2254delG
p.Glu752ArgfsX63

Protein change:

E752fs

Links:

dbSNP: rs1060499897

NCBI 1000 Genomes Browser:

rs1060499897

Molecular consequence:

NM_001034853.2:c.2254del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000328.3:c.1905+349del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367245.1:c.1902+349del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367246.1:c.1719+349del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367247.1:c.1572+4214del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367248.1:c.1602+4214del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367249.1:c.1569+4214del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367250.1:c.1569+4214del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367251.1:c.1386+4214del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000540219	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Mar 28, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000540219

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Mar 28, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000540219.1

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

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Does not affect coding region of major transcript.

#	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: Dec 24, 2022

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