NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) AND CRB1-related maculopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 30, 2021
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:: RCV001353031.2

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]

Condition(s)

Name:: CRB1-related maculopathy
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001548145	Institute of Medical Molecular Genetics, University of Zurich	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 30, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 33546218

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001548145

Institute of Medical Molecular Genetics, University of Zurich

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 30, 2021)

germline

clinical testing

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	yes	not provided	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

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Maggi J, Koller S, Bähr L, Feil S, Kivrak Pfiffner F, Hanson JVM, Maspoli A, Gerth-Kahlert C, Berger W.

Int J Mol Sci. 2021 Feb 3;22(4). doi:pii: 1508. 10.3390/ijms22041508.

PubMed [citation]

PMID:: 33546218
PMCID:: PMC7913364

Details of each submission

From Institute of Medical Molecular Genetics, University of Zurich, SCV001548145.1

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

#	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: Jun 2, 2024

ClinVar

Relating variation to medicine