NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 25, 2013
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:: RCV000082822.8

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)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000114870	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Sep 25, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000114870

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely benign
(Sep 25, 2013)

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	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000114870.8

#	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	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 2, 2024

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