NM_001034853.2(RPGR):c.883C>T (p.Gln295Ter) AND Retinitis pigmentosa 6

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 16, 2019
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:: RCV001171309.1

Allele description [Variation Report for NM_001034853.2(RPGR):c.883C>T (p.Gln295Ter)]

NM_001034853.2(RPGR):c.883C>T (p.Gln295Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

Preferred name:

NM_001034853.2(RPGR):c.883C>T (p.Gln295Ter)

HGVS:

NC_000023.11:g.38304686G>A
NG_009553.1:g.27850C>T
NM_000328.3:c.883C>T
NM_001034853.2:c.883C>TMANE SELECT
NM_001367245.1:c.880C>T
NM_001367246.1:c.883C>T
NM_001367247.1:c.883C>T
NM_001367248.1:c.913C>T
NM_001367249.1:c.880C>T
NM_001367250.1:c.880C>T
NM_001367251.1:c.883C>T
NP_000319.1:p.Gln295Ter
NP_001030025.1:p.Gln295Ter
NP_001354174.1:p.Gln294Ter
NP_001354175.1:p.Gln295Ter
NP_001354176.1:p.Gln295Ter
NP_001354177.1:p.Gln305Ter
NP_001354178.1:p.Gln294Ter
NP_001354179.1:p.Gln294Ter
NP_001354180.1:p.Gln295Ter
NC_000023.10:g.38163939G>A
NM_000328.2:c.883C>T
NR_159803.1:n.1025C>T
NR_159804.1:n.934C>T
NR_159805.1:n.1025C>T
NR_159806.1:n.1025C>T
NR_159807.1:n.1025C>T
p.Gln295X

Protein change:

Q294*

Links:

dbSNP: rs2067562961

NCBI 1000 Genomes Browser:

rs2067562961

Molecular consequence:

NR_159803.1:n.1025C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159804.1:n.934C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159805.1:n.1025C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159806.1:n.1025C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159807.1:n.1025C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000328.3:c.883C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001034853.2:c.883C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001367245.1:c.880C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001367246.1:c.883C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001367247.1:c.883C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001367248.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001367249.1:c.880C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001367250.1:c.880C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001367251.1:c.883C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Retinitis pigmentosa 6
Synonyms:: RETINITIS PIGMENTOSA, X-LINKED RECESSIVE, 6; RP 6
Identifiers:: MONDO: MONDO:0000910; MedGen: C1839368; Orphanet: 791; OMIM: 312612

Recent activity

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serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform ...
serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform c [Mus musculus]
gi|125346154|ref|NP_001074927.1|

Protein
sucrose synthase 4 [Musa acuminata AAA Group]
sucrose synthase 4 [Musa acuminata AAA Group]
gi|2730168471|ref|XP_009414138.2|

Protein
A transcription factor addiction imposed by an oncogene promoter sequence [RNA-s...
A transcription factor addiction imposed by an oncogene promoter sequence [RNA-seq]
A transcription factor addiction imposed by an oncogene promoter sequence [RNA-seq]

BioProject
amino acid adenylation domain-containing protein [Litoribaculum gwangyangense]
amino acid adenylation domain-containing protein [Litoribaculum gwangyangense]
gi|2731170974|ref|WP_345278355.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001334039	Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 16, 2019)	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

SCV001334039

Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 16, 2019)

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	1	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 Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV001334039.1

#	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	1	not provided

Last Updated: Apr 23, 2022

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