NM_006915.3(RP2):c.409_411del (p.Ile137del) AND Retinal dystrophy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 30, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001074380.3

Allele description [Variation Report for NM_006915.3(RP2):c.409_411del (p.Ile137del)]

NM_006915.3(RP2):c.409_411del (p.Ile137del)

Gene:

RP2:RP2 activator of ARL3 GTPase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp11.3

Genomic location:

Preferred name:

NM_006915.3(RP2):c.409_411del (p.Ile137del)

HGVS:

NC_000023.11:g.46853782_46853784del
NG_009107.1:g.21871_21873del
NM_006915.3:c.409_411delMANE SELECT
NP_008846.2:p.Ile137del
NC_000023.10:g.46713217_46713219del
NM_006915.2:c.409_411del
NM_006915.2:c.409_411delATT

Protein change:

I137del

Links:

dbSNP: rs1924904597

NCBI 1000 Genomes Browser:

rs1924904597

Molecular consequence:

NM_006915.3:c.409_411del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Retinal dystrophy
Synonyms:: Inherited retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001239958	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Pathogenic (Jul 30, 2019)	germline	clinical testing	Citation Link,
SCV005073001	Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2013)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 10937588, 28209709, 31960602, 36819107, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001239958

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Pathogenic
(Jul 30, 2019)

germline

clinical testing

Citation Link,

SCV005073001

Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2013)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

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

X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.

Sharon D, Bruns GA, McGee TL, Sandberg MA, Berson EL, Dryja TP.

Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2712-21.

PubMed [citation]

PMID:: 10937588

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.

Liu F, Qin Y, Yu S, Soares DC, Yang L, Weng J, Li C, Gao M, Lu Z, Hu X, Liu X, Jiang T, Liu JY, Shu X, Tang Z, Liu M.

J Biol Chem. 2017 Apr 14;292(15):6225-6239. doi: 10.1074/jbc.M116.760314. Epub 2017 Feb 16.

PubMed [citation]

PMID:: 28209709
PMCID:: PMC5391753

See all PubMed Citations (5)

Details of each submission

From Blueprint Genetics, SCV001239958.1

#	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 Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV005073001.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	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: Dec 28, 2024

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