NM_201253.3(CRB1):c.57dup (p.Ile20fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 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:: RCV001091025.22

Allele description [Variation Report for NM_201253.3(CRB1):c.57dup (p.Ile20fs)]

NM_201253.3(CRB1):c.57dup (p.Ile20fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_201253.3(CRB1):c.57dup (p.Ile20fs)

HGVS:

NC_000001.11:g.197268469dup
NG_008483.2:g.72008dup
NM_001193640.2:c.57dup
NM_001257965.2:c.-212-33971dup
NM_001257966.2:c.57dup
NM_201253.3:c.57dupMANE SELECT
NP_001180569.1:p.Ile20fs
NP_001244895.1:p.Ile20fs
NP_957705.1:p.Ile20fs
NC_000001.10:g.197237597_197237598insT
NC_000001.10:g.197237599dup
NM_201253.2:c.57dup
NM_201253.2:c.57dupT
NR_047563.2:n.218dup
NR_047564.2:n.218dup

Protein change:

I20fs

Links:

dbSNP: rs1343680080

NCBI 1000 Genomes Browser:

rs1343680080

Molecular consequence:

NM_001193640.2:c.57dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257966.2:c.57dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_201253.3:c.57dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257965.2:c.-212-33971dup - intron variant - [Sequence Ontology: SO:0001627]
NR_047563.2:n.218dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_047564.2:n.218dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001246856	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Sep 1, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001246856

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Sep 1, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001246856.26

#	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	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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