NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) AND X-linked cone-rod dystrophy 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 15, 2022
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:: RCV002290587.4

Allele description [Variation Report for NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)]

NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)

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.3092del (p.Glu1031fs)

HGVS:

NC_000023.11:g.38285907del
NG_009553.1:g.46629del
NM_000328.3:c.1905+1187del
NM_001034853.2:c.3092delMANE SELECT
NM_001367245.1:c.1902+1187del
NM_001367246.1:c.1719+1187del
NM_001367247.1:c.1572+5052del
NM_001367248.1:c.1602+5052del
NM_001367249.1:c.1569+5052del
NM_001367250.1:c.1569+5052del
NM_001367251.1:c.1386+5052del
NP_001030025.1:p.Glu1031fs
NC_000023.10:g.38145160del
NC_000023.10:g.38145160del
NM_000328.3:c.1905+1187del
NM_001034853.1:c.3092del
NM_001034853.1:c.3092delA

Protein change:

E1031fs

Links:

dbSNP: rs1186795749

NCBI 1000 Genomes Browser:

rs1186795749

Molecular consequence:

NM_001034853.2:c.3092del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000328.3:c.1905+1187del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367245.1:c.1902+1187del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367246.1:c.1719+1187del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367247.1:c.1572+5052del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367248.1:c.1602+5052del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367249.1:c.1569+5052del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367250.1:c.1569+5052del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367251.1:c.1386+5052del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: X-linked cone-rod dystrophy 1 (CORDX1)
Identifiers:: MONDO: MONDO:0010566; MedGen: C1844776; Orphanet: 1872; OMIM: 304020

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002580631	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 15, 2022)	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

SCV002580631

MGZ Medical Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 15, 2022)

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	1	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 MGZ Medical Genetics Center, SCV002580631.1

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

Last Updated: Nov 30, 2024

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