NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) AND Macular dystrophy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 27, 2017
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:: RCV000505142.2

Allele description [Variation Report for NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)]

NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)

HGVS:

NC_000001.11:g.197429460T>A
NG_008483.2:g.232999T>A
NM_001193640.2:c.2352T>A
NM_001257965.2:c.2616T>A
NM_001257966.2:c.2129-6140T>A
NM_201253.3:c.2688T>AMANE SELECT
NP_001180569.1:p.Cys784Ter
NP_001244894.1:p.Cys872Ter
NP_957705.1:p.Cys896Ter
NC_000001.10:g.197398590T>A
NM_201253.2:c.2688T>A
NR_047563.2:n.2641T>A
NR_047564.2:n.2849T>A

Protein change:

C784*

Links:

dbSNP: rs62636273

NCBI 1000 Genomes Browser:

rs62636273

Molecular consequence:

NM_001257966.2:c.2129-6140T>A - intron variant - [Sequence Ontology: SO:0001627]
NR_047563.2:n.2641T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_047564.2:n.2849T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001193640.2:c.2352T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001257965.2:c.2616T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_201253.3:c.2688T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Macular dystrophy
Identifiers:: MedGen: C0730292; Human Phenotype Ontology: HP:0007754

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BioSample Links for BioProject (Select 686894) (1)
BioSample
Microbe sample from Lactiplantibacillus plantarum
Microbe sample from Lactiplantibacillus plantarum

biosample
txid1917525[Organism:noexp] (1)
SRA

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000598917	NIHR Bioresource Rare Diseases, University of Cambridge	no assertion criteria provided	Pathogenic (Jan 1, 2015)	unknown	research	PubMed (2) [See all records that cite these PMIDs] 15024725, 28041643
SCV000611554	Molecular Medicine, University of Leeds	criteria provided, single submitter (Khan et al. (Eur J Hum Genet. 2018))	Pathogenic (Oct 27, 2017)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000598917

NIHR Bioresource Rare Diseases, University of Cambridge

no assertion criteria provided

Pathogenic
(Jan 1, 2015)

unknown

research

PubMed (2)
[See all records that cite these PMIDs]

SCV000611554

Molecular Medicine, University of Leeds

criteria provided, single submitter

(Khan et al. (Eur J Hum Genet. 2018))

Pathogenic
(Oct 27, 2017)

germline

research

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	not provided	not provided	research
European	unknown	yes	2	not provided	not provided	2	not provided	research

Citations

PubMed

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J.

Hum Mutat. 2004 Apr;23(4):306-17.

PubMed [citation]

PMID:: 15024725

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]

PMID:: 28041643
PMCID:: PMC5223092

See all PubMed Citations (3)

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000598917.1

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

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

From Molecular Medicine, University of Leeds, SCV000611554.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	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		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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