NM_001034853.2(RPGR):c.1281_1282del (p.Leu428fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 23, 2020
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:: RCV001268165.2

Allele description [Variation Report for NM_001034853.2(RPGR):c.1281_1282del (p.Leu428fs)]

NM_001034853.2(RPGR):c.1281_1282del (p.Leu428fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

Xp11.4

Genomic location:

Preferred name:

NM_001034853.2(RPGR):c.1281_1282del (p.Leu428fs)

HGVS:

NC_000023.11:g.38297416GT[1]
NG_009553.1:g.35117AC[1]
NM_000328.3:c.1281_1282del
NM_001034853.2:c.1281_1282delMANE SELECT
NM_001367245.1:c.1278_1279del
NM_001367246.1:c.1095_1096del
NM_001367247.1:c.1281_1282del
NM_001367248.1:c.1311_1312del
NM_001367249.1:c.1278_1279del
NM_001367250.1:c.1278_1279del
NM_001367251.1:c.1095_1096del
NP_000319.1:p.Leu428fs
NP_001030025.1:p.Leu428fs
NP_001354174.1:p.Leu427fs
NP_001354175.1:p.Leu366fs
NP_001354176.1:p.Leu428fs
NP_001354177.1:p.Leu438fs
NP_001354178.1:p.Leu427fs
NP_001354179.1:p.Leu427fs
NP_001354180.1:p.Leu366fs
NC_000023.10:g.38156669GT[1]
NR_159803.1:n.1481AC[1]
NR_159804.1:n.1355AC[1]
NR_159805.1:n.1421AC[1]
NR_159806.1:n.1421AC[1]
NR_159807.1:n.1421AC[1]
NR_159808.1:n.1533AC[1]

Protein change:

L366fs

Links:

dbSNP: rs2067408614

NCBI 1000 Genomes Browser:

rs2067408614

Molecular consequence:

NM_000328.3:c.1281_1282del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001034853.2:c.1281_1282del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001367245.1:c.1278_1279del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001367246.1:c.1095_1096del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001367247.1:c.1281_1282del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001367248.1:c.1311_1312del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001367249.1:c.1278_1279del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001367250.1:c.1278_1279del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001367251.1:c.1095_1096del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_159803.1:n.1481AC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159804.1:n.1355AC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159805.1:n.1421AC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159806.1:n.1421AC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159807.1:n.1421AC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_159808.1:n.1533AC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001446877	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 23, 2020)	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

SCV001446877

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 23, 2020)

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	1	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 Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001446877.1

#	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	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 7, 2024

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