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NM_153676.4(USH1C):c.2326dup (p.Ile776fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 21, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001232682.5

Allele description [Variation Report for NM_153676.4(USH1C):c.2326dup (p.Ile776fs)]

NM_153676.4(USH1C):c.2326dup (p.Ile776fs)

Gene:
USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_153676.4(USH1C):c.2326dup (p.Ile776fs)
HGVS:
  • NC_000011.10:g.17501105dup
  • NG_011883.2:g.48312dup
  • NM_001297764.2:c.1369dup
  • NM_005709.4:c.1426dup
  • NM_153676.3:c.2326dupA
  • NM_153676.4:c.2326dupMANE SELECT
  • NP_001284693.1:p.Ile457fs
  • NP_005700.2:p.Ile476fs
  • NP_710142.1:p.Ile776fs
  • NC_000011.9:g.17522651_17522652insT
  • NC_000011.9:g.17522652dup
  • NG_011883.1:g.48312dup
  • NM_005709.3:c.1426dup
  • NM_005709.3:c.1426dupA
  • NM_005709.4:c.1426dup
  • NR_123738.2:n.1461dup
Protein change:
I457fs
Links:
dbSNP: rs758555088
NCBI 1000 Genomes Browser:
rs758555088
Molecular consequence:
  • NM_001297764.2:c.1369dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005709.4:c.1426dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_153676.4:c.2326dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_123738.2:n.1461dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001405249Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 21, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C.

Nat Genet. 2000 Sep;26(1):51-5.

PubMed [citation]
PMID:
10973247

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.

Ebermann I, Lopez I, Bitner-Glindzicz M, Brown C, Koenekoop RK, Bolz HJ.

Genome Biol. 2007;8(4):R47.

PubMed [citation]
PMID:
17407589
PMCID:
PMC1895989
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001405249.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 555137). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. This variant is present in population databases (rs758555088, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ile476Asnfs*11) in the USH1C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349).

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

Last Updated: Mar 10, 2024