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NM_133261.3(GIPC3):c.565C>T (p.Arg189Cys) AND Autosomal recessive nonsyndromic hearing loss 15

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2011
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:
RCV000023737.3

Allele description [Variation Report for NM_133261.3(GIPC3):c.565C>T (p.Arg189Cys)]

NM_133261.3(GIPC3):c.565C>T (p.Arg189Cys)

Gene:
GIPC3:GIPC PDZ domain containing family member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_133261.3(GIPC3):c.565C>T (p.Arg189Cys)
HGVS:
  • NC_000019.10:g.3586967C>T
  • NG_031943.1:g.6397C>T
  • NM_133261.3:c.565C>TMANE SELECT
  • NP_573568.1:p.Arg189Cys
  • NC_000019.9:g.3586965C>T
  • Q8TF64:p.Arg189Cys
Protein change:
R189C; ARG189CYS
Links:
UniProtKB: Q8TF64#VAR_065970; OMIM: 608792.0006; dbSNP: rs387907002
NCBI 1000 Genomes Browser:
rs387907002
Molecular consequence:
  • NM_133261.3:c.565C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 15
Synonyms:
DEAFNESS, AUTOSOMAL RECESSIVE 15; DEAFNESS, AUTOSOMAL RECESSIVE 72; DEAFNESS, AUTOSOMAL RECESSIVE 95
Identifiers:
MONDO: MONDO:0011160; MedGen: C1866094; Orphanet: 90636; OMIM: 601869

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000045028OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2011) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.

Rehman AU, Gul K, Morell RJ, Lee K, Ahmed ZM, Riazuddin S, Ali RA, Shahzad M, Jaleel AU, Andrade PB, Khan SN, Khan S, Brewer CC, Ahmad W, Leal SM, Riazuddin S, Friedman TB.

Hum Genet. 2011 Dec;130(6):759-65. doi: 10.1007/s00439-011-1018-5. Epub 2011 Jun 10.

PubMed [citation]
PMID:
21660509
PMCID:
PMC3303183

Details of each submission

From OMIM, SCV000045028.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a consanguineous Pakistani family with DFNB15 (601869), Rehman et al. (2011) identified a homozygous 565C-T transition in exon 3 of the GIPC3 gene, resulting in arg189-to-cys (R189C) substitution in a conserved residue in the PDZ domain. The mutation was not found in 590 control chromosomes.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025