NM_006383.4(CIB2):c.192G>C (p.Glu64Asp) AND Usher syndrome type 1

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000223233.10

Allele description [Variation Report for NM_006383.4(CIB2):c.192G>C (p.Glu64Asp)]

NM_006383.4(CIB2):c.192G>C (p.Glu64Asp)

Gene:

CIB2:calcium and integrin binding family member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q25.1

Genomic location:

Preferred name:

NM_006383.4(CIB2):c.192G>C (p.Glu64Asp)

HGVS:

NC_000015.10:g.78111171C>G
NG_033006.1:g.25365G>C
NM_001271888.2:c.63G>C
NM_001271889.2:c.52-1789G>C
NM_001301224.2:c.87-1662G>C
NM_006383.4:c.192G>CMANE SELECT
NP_001258817.1:p.Glu21Asp
NP_006374.1:p.Glu64Asp
NC_000015.9:g.78403513C>G
NM_006383.3:c.192G>C
O75838:p.Glu64Asp

Protein change:

E21D; GLU64ASP

Links:

UniProtKB: O75838#VAR_069086; OMIM: 605564.0004; dbSNP: rs145415848

NCBI 1000 Genomes Browser:

rs145415848

Molecular consequence:

NM_001271889.2:c.52-1789G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001301224.2:c.87-1662G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001271888.2:c.63G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006383.4:c.192G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Usher syndrome type 1 (USH1)
Synonyms:: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS; Usher syndrome, type I, French variety
Identifiers:: MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000268765	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000268765

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (1)
[See all records that cite this PMID]

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	literature only

Citations

PubMed

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, et al.

Nat Genet. 2012 Nov;44(11):1265-71. doi: 10.1038/ng.2426. Epub 2012 Sep 30.

PubMed [citation]

PMID:: 23023331
PMCID:: PMC3501259

Details of each submission

From GeneReviews, SCV000268765.2

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

Last Updated: Apr 20, 2025

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