NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) AND Macular dystrophy

Germline classification:: Pathogenic (3 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:: RCV000505172.5

Allele description [Variation Report for NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)]

NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)

Other names:

NC_000001.10:g.197297979_197297987del; NP_957705.1:p.(Ile167_Gly169del)

HGVS:

NC_000001.11:g.197328849_197328857del
NG_008483.2:g.132388_132396del
NM_001193640.2:c.498_506del
NM_001257965.2:c.291_299del
NM_001257966.2:c.498_506del
NM_201253.3:c.498_506delMANE SELECT
NP_001180569.1:p.Ile167_Gly169del
NP_001244894.1:p.Ile98_Gly100del
NP_001244895.1:p.Ile167_Gly169del
NP_957705.1:p.Ile167_Gly169del
NC_000001.10:g.197297974_197297982del
NC_000001.10:g.197297974_197297982delGATGGAATT
NC_000001.10:g.197297974_197297982delGATGGAATT
NC_000001.10:g.197297979_197297987del
NC_000001.10:g.197297979_197297987delAATTGATGG
NM_001257965.1:c.291_299delAATTGATGG
NM_201253.2:c.498_506del
NM_201253.2:c.498_506del9
NM_201253.2:c.498_506delAATTGATGG
NR_047563.2:n.659_667del
NR_047564.2:n.659_667del

Links:

dbSNP: rs398124615

NCBI 1000 Genomes Browser:

rs398124615

Molecular consequence:

NM_001193640.2:c.498_506del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001257965.2:c.291_299del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001257966.2:c.498_506del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_201253.3:c.498_506del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_047563.2:n.659_667del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_047564.2:n.659_667del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000598923	NIHR Bioresource Rare Diseases, University of Cambridge	no assertion criteria provided	Likely pathogenic (Jan 1, 2015)	unknown	research	PubMed (2) [See all records that cite these PMIDs] 17297678, 28041643
SCV000611552	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]
SCV000804629	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	no assertion criteria provided	Pathogenic (Sep 1, 2016)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000598923

NIHR Bioresource Rare Diseases, University of Cambridge

no assertion criteria provided

Likely pathogenic
(Jan 1, 2015)

unknown

research

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

SCV000611552

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]

SCV000804629

Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

no assertion criteria provided

Pathogenic
(Sep 1, 2016)

unknown

clinical testing

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
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing
European	unknown	yes	2	not provided	not provided	2	not provided	research

Citations

PubMed

Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510.

Vallespin E, Cantalapiedra D, Garcia-Hoyos M, Riveiro R, Villaverde C, Trujillo-Tiebas MJ, Ayuso C.

Hum Genet. 2006 Feb;118(6):774. No abstract available.

PubMed [citation]

PMID:: 17297678

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, SCV000598923.1

#	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, SCV000611552.1

#	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

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+, SCV000804629.2

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

Last Updated: Jun 2, 2024

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