NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs) AND Retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
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:: RCV000225570.1

Allele description [Variation Report for NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs)]

NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs)

HGVS:

NC_000001.11:g.197421440_197421441insCTTA
NG_008483.2:g.224979_224980insCTTA
NM_001193640.2:c.1276_1277insCTTA
NM_001257965.2:c.1405_1406insCTTA
NM_001257966.2:c.1612_1613insCTTA
NM_201253.3:c.1612_1613insCTTAMANE SELECT
NP_001180569.1:p.Leu426fs
NP_001244894.1:p.Leu469fs
NP_001244895.1:p.Leu538fs
NP_957705.1:p.Leu538fs
NC_000001.10:g.197390570_197390571insCTTA
NM_201253.2:c.1612_1613insCTTA
NR_047563.2:n.1773_1774insCTTA
NR_047564.2:n.1773_1774insCTTA

Protein change:

L426fs

Links:

dbSNP: rs878853364

NCBI 1000 Genomes Browser:

rs878853364

Molecular consequence:

NM_001193640.2:c.1276_1277insCTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257965.2:c.1405_1406insCTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257966.2:c.1612_1613insCTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_201253.3:c.1612_1613insCTTA - frameshift variant - [Sequence Ontology: SO:0001589]
NR_047563.2:n.1773_1774insCTTA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_047564.2:n.1773_1774insCTTA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000282576	Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	no assertion criteria provided	Likely pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000282576

Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

no assertion criteria provided

Likely pathogenic

germline

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	clinical testing

Details of each submission

From Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals, SCV000282576.1

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