NM_006915.3(RP2):c.16_18del (p.Ser6del) AND Retinitis pigmentosa 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 12, 2000
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000011290.8

Allele description [Variation Report for NM_006915.3(RP2):c.16_18del (p.Ser6del)]

NM_006915.3(RP2):c.16_18del (p.Ser6del)

Genes:

LOC130068202:ATAC-STARR-seq lymphoblastoid active region 29577 [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.16_18del (p.Ser6del)

HGVS:

NC_000023.11:g.46837116_46837118del
NG_009107.1:g.5205_5207del
NM_006915.3:c.16_18delMANE SELECT
NP_008846.2:p.Ser6del
NC_000023.10:g.46696550_46696552del
NC_000023.10:g.46696551_46696553del

Protein change:

S6del; SER6DEL

Links:

OMIM: 300757.0001; dbSNP: rs137852284

NCBI 1000 Genomes Browser:

rs137852284

Molecular consequence:

NM_006915.3:c.16_18del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Retinitis pigmentosa 2 (RP2)
Synonyms:: Retinitis pigmentosa 2, X linked
Identifiers:: MONDO: MONDO:0010723; MedGen: C2681923; Orphanet: 791; OMIM: 312600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031518	OMIM	no assertion criteria provided	Pathogenic (Aug 12, 2000)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 9697692, 10942419

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031518

OMIM

no assertion criteria provided

Pathogenic
(Aug 12, 2000)

germline

literature only

PubMed (2)
[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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Positional cloning of the gene for X-linked retinitis pigmentosa 2.

Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W.

Nat Genet. 1998 Aug;19(4):327-32.

PubMed [citation]

PMID:: 9697692

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.

Chapple JP, Hardcastle AJ, Grayson C, Spackman LA, Willison KR, Cheetham ME.

Hum Mol Genet. 2000 Aug 12;9(13):1919-26.

PubMed [citation]

PMID:: 10942419

Details of each submission

From OMIM, SCV000031518.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a patient with X-linked retinitis pigmentosa (RP2; 312600), Schwahn et al. (1998) demonstrated a deletion of codon 6, TCC (serine), in the RP2 gene. Chapple et al. (2000) showed that the ser6del mutation interfered with the targeting of the protein to the plasma membrane.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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