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NM_015404.4(WHRN):c.307C>T (p.Gln103Ter) AND Usher syndrome type 2D

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2007
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:
RCV000002809.4

Allele description [Variation Report for NM_015404.4(WHRN):c.307C>T (p.Gln103Ter)]

NM_015404.4(WHRN):c.307C>T (p.Gln103Ter)

Gene:
WHRN:whirlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q32
Genomic location:
Preferred name:
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter)
HGVS:
  • NC_000009.12:g.114504495G>A
  • NG_016700.1:g.5962C>T
  • NM_001173425.2:c.307C>T
  • NM_015404.4:c.307C>TMANE SELECT
  • NP_001166896.1:p.Gln103Ter
  • NP_056219.3:p.Gln103Ter
  • LRG_1094t1:c.307C>T
  • LRG_1094:g.5962C>T
  • LRG_1094p1:p.Gln103Ter
  • NC_000009.11:g.117266775G>A
Protein change:
Q103*; GLN103TER
Links:
OMIM: 607928.0002; dbSNP: rs137852840
NCBI 1000 Genomes Browser:
rs137852840
Molecular consequence:
  • NM_001173425.2:c.307C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015404.4:c.307C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Usher syndrome type 2D
Synonyms:
USHER SYNDROME, TYPE IID
Identifiers:
MONDO: MONDO:0012662; MedGen: C1568249; Orphanet: 231178; Orphanet: 886; OMIM: 611383

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022967OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 2007) 		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

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millán JM, Aller E, Mitter D, Bolz H.

Hum Genet. 2007 Apr;121(2):203-11. Epub 2006 Dec 15.

PubMed [citation]
PMID:
17171570

Details of each submission

From OMIM, SCV000022967.3

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

Description

In 2 German sibs with mild congenital hearing loss, retinitis pigmentosa, and no vestibular dysfunction (USH2D; 611383), Ebermann et al. (2007) identified compound heterozygosity for a 307C-T transition in exon 1 of the WHRN gene, resulting in a gln103-to-ter (Q103X) substitution, and a splice site mutation (837+1G-A; 607928.0003) in the donor site of intron 2, causing in-frame skipping of exon 2. The splice site mutation was predicted to result in an aberrant long isoform of whirlin lacking 73 residues (9 from PDZ1, the 53-residue linker region, and 11 from PDZ2). The mutations were not found in 100 healthy controls.

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

Last Updated: Apr 23, 2022