U.S. flag

An official website of the United States government

NM_001292063.2(OTOG):c.6311C>T (p.Pro2104Leu) AND Autosomal recessive nonsyndromic hearing loss 18B

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 2, 2012
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:
RCV000033039.2

Allele description [Variation Report for NM_001292063.2(OTOG):c.6311C>T (p.Pro2104Leu)]

NM_001292063.2(OTOG):c.6311C>T (p.Pro2104Leu)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.6311C>T (p.Pro2104Leu)
HGVS:
  • NC_000011.10:g.17612638C>T
  • NG_033191.2:g.70266C>T
  • NM_001277269.2:c.6347C>T
  • NM_001292063.2:c.6311C>TMANE SELECT
  • NP_001264198.1:p.Pro2116Leu
  • NP_001278992.1:p.Pro2104Leu
  • NC_000011.9:g.17634185C>T
  • Q6ZRI0:p.Pro2116Leu
Protein change:
P2104L; PRO2116LEU
Links:
UniProtKB: Q6ZRI0#VAR_069250; OMIM: 604487.0002; dbSNP: rs397514607
NCBI 1000 Genomes Browser:
rs397514607
Molecular consequence:
  • NM_001277269.2:c.6347C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.2:c.6311C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 18B
Synonyms:
Deafness, autosomal recessive 18b
Identifiers:
MONDO: MONDO:0013985; MedGen: C3554163; Orphanet: 90636; OMIM: 614945

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056819OMIM
no assertion criteria provided
Pathogenic
(Nov 2, 2012)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Domínguez-Ruiz M, García-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H.

Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012.

PubMed [citation]
PMID:
23122587
PMCID:
PMC3487128

Details of each submission

From OMIM, SCV000056819.1

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

Description

In an affected brother and sister from a Spanish family segregating autosomal recessive nonsyndromic deafness (DFNB18B; 614945), Schraders et al. (2012) identified compound heterozygosity for a 6347C-T transition in exon 37 of the OTOG gene, resulting in a pro2116-to-leu (P2116L) substitution at a highly conserved residue in the fourth von Willebrand factor type D domain, and a 6559C-T transition in exon 38, resulting in an arg2187-to-ter (R2187X; 604487.0003) substitution. The unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in 315 normal-hearing Spanish controls or in the 1000 Genomes Project. In addition to moderate hearing impairment, the sibs exhibited bilateral vestibular deficits on bithermal caloric testing, although they had no complaints of dizziness or walking instability.

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

Last Updated: Apr 23, 2022