NM_201253.3(CRB1):c.2842+1delinsAA AND Retinitis pigmentosa 12

Germline classification:: Pathogenic (1 submission)
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:: RCV001290091.1

Allele description [Variation Report for NM_201253.3(CRB1):c.2842+1delinsAA]

NM_201253.3(CRB1):c.2842+1delinsAA

Gene:

CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_201253.3(CRB1):c.2842+1delinsAA

HGVS:

NC_000001.11:g.197429615delGinsAA
NC_000001.11:g.197429615delinsAA
NG_008483.2:g.233154delinsAA
NM_001193640.2:c.2506+1delinsAA
NM_001257965.2:c.2770+1delinsAA
NM_001257966.2:c.2129-5985delinsAA
NM_201253.3:c.2842+1delinsAAMANE SELECT
NC_000001.10:g.197398745delinsAA

Links:

dbSNP: rs1664779239

NCBI 1000 Genomes Browser:

rs1664779239

Molecular consequence:

NM_001257966.2:c.2129-5985delinsAA - intron variant - [Sequence Ontology: SO:0001627]
NM_001193640.2:c.2506+1delinsAA - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001257965.2:c.2770+1delinsAA - splice donor variant - [Sequence Ontology: SO:0001575]
NM_201253.3:c.2842+1delinsAA - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

Name:: Retinitis pigmentosa 12 (RP12)
Synonyms:: RP 12; RP WITH OR WITHOUT PPRPE; RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010818; MedGen: C1838647; Orphanet: 791; OMIM: 600105

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001424557	Moosajee Lab, UCL Institute of Ophthalmology	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	inherited	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

SCV001424557

Moosajee Lab, UCL Institute of Ophthalmology

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

inherited

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
Arab	inherited	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 Moosajee Lab, UCL Institute of Ophthalmology, SCV001424557.1

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

Description

This man is compound heterozygous with c.2506C>A p.(Pro836Thr).

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

Last Updated: May 7, 2024

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