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NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) AND USH1C-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 28, 2024
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:
RCV004755980.1

Allele description [Variation Report for NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)]

NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)

Gene:
USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
HGVS:
  • NC_000011.10:g.17521392G>A
  • NG_011883.2:g.28025C>T
  • NM_001297764.2:c.982C>T
  • NM_005709.4:c.1039C>T
  • NM_153676.4:c.1039C>TMANE SELECT
  • NP_001284693.1:p.Gln328Ter
  • NP_005700.2:p.Gln347Ter
  • NP_710142.1:p.Gln347Ter
  • NC_000011.9:g.17542939G>A
  • NG_011883.1:g.28025C>T
  • NM_153676.3:c.1039C>T
  • NR_123738.2:n.1148C>T
Protein change:
Q328*
Links:
dbSNP: rs762551629
NCBI 1000 Genomes Browser:
rs762551629
Molecular consequence:
  • NR_123738.2:n.1148C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001297764.2:c.982C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005709.4:c.1039C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_153676.4:c.1039C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
USH1C-related disorder
Synonyms:
USH1C-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005347393PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Jun 28, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005347393.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The USH1C c.1039C>T variant is predicted to result in premature protein termination (p.Gln347*). This variant has been reported with a second USH1C variant in an individual with Usher syndrome (Supplementary Table 3, Feenstra et al. 2022. PubMed ID: 36011334). This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD. Nonsense variants in USH1C are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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

Last Updated: Oct 13, 2024