NM_001034853.2(RPGR):c.2845del (p.Glu949fs) AND Retinitis pigmentosa 3

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 5, 2024
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:: RCV001251529.5

Allele description [Variation Report for NM_001034853.2(RPGR):c.2845del (p.Glu949fs)]

NM_001034853.2(RPGR):c.2845del (p.Glu949fs)

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.2845del (p.Glu949fs)

HGVS:

NC_000023.11:g.38286158del
NG_009553.1:g.46382del
NM_000328.3:c.1905+940del
NM_001034853.2:c.2845delMANE SELECT
NM_001367245.1:c.1902+940del
NM_001367246.1:c.1719+940del
NM_001367247.1:c.1572+4805del
NM_001367248.1:c.1602+4805del
NM_001367249.1:c.1569+4805del
NM_001367250.1:c.1569+4805del
NM_001367251.1:c.1386+4805del
NP_001030025.1:p.Glu949fs
NC_000023.10:g.38145407del
NC_000023.10:g.38145411del
NM_001034853.1:c.2845del

Protein change:

E949fs

Links:

dbSNP: rs2067148119

NCBI 1000 Genomes Browser:

rs2067148119

Molecular consequence:

NM_001034853.2:c.2845del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000328.3:c.1905+940del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367245.1:c.1902+940del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367246.1:c.1719+940del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367247.1:c.1572+4805del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367248.1:c.1602+4805del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367249.1:c.1569+4805del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367250.1:c.1569+4805del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367251.1:c.1386+4805del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Retinitis pigmentosa 3
Synonyms:: Cone-rod degeneration X-linked; Choroidoretinal degeneration with retinal reflex in heterozygous women; Retinitis pigmentosa 15
Identifiers:: MONDO: MONDO:0010227; MedGen: C1845667; Orphanet: 791; OMIM: 300029

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001427331	Blueprint Genetics	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV004698005	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 5, 2024)	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

SCV001427331

Blueprint Genetics

no assertion criteria provided

Pathogenic

germline

clinical testing

SCV004698005

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 5, 2024)

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Blueprint Genetics, SCV001427331.1

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

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV004698005.1

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

#	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: Nov 30, 2024

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