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NM_153676.4(USH1C):c.1146dup (p.Gln383fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 5, 2017
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:
RCV000671259.1

Allele description [Variation Report for NM_153676.4(USH1C):c.1146dup (p.Gln383fs)]

NM_153676.4(USH1C):c.1146dup (p.Gln383fs)

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.1146dup (p.Gln383fs)
HGVS:
  • NC_000011.10:g.17520935dup
  • NG_011883.2:g.28483dup
  • NM_001297764.2:c.1089dup
  • NM_005709.4:c.1146dup
  • NM_153676.4:c.1146dupMANE SELECT
  • NP_001284693.1:p.Gln364fs
  • NP_005700.2:p.Gln383fs
  • NP_710142.1:p.Gln383fs
  • NC_000011.9:g.17542480_17542481insT
  • NC_000011.9:g.17542482dup
  • NG_011883.1:g.28483dup
  • NM_005709.3:c.1146dupA
  • NR_123738.2:n.1255dup
Protein change:
Q364fs
Links:
dbSNP: rs1554960388
NCBI 1000 Genomes Browser:
rs1554960388
Molecular consequence:
  • NM_001297764.2:c.1089dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005709.4:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_153676.4:c.1146dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_123738.2:n.1255dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Usher syndrome type 1C
Synonyms:
USHER SYNDROME, TYPE I, ACADIAN VARIETY; Usher syndrome, Acadian variety
Identifiers:
MONDO: MONDO:0010171; MedGen: C1848604; Orphanet: 231169; Orphanet: 886; OMIM: 276904
Name:
Autosomal recessive nonsyndromic hearing loss 18A
Synonyms:
Deafness, autosomal recessive 18; Deafness, autosomal recessive 18A
Identifiers:
MONDO: MONDO:0011192; MedGen: C1865870; Orphanet: 90636; OMIM: 602092

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000796216Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Dec 5, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Dad S, Rendtorff ND, Tranebjærg L, Grønskov K, Karstensen HG, Brox V, Nilssen Ø, Roux AF, Rosenberg T, Jensen H, Møller LB.

Mol Genet Genomic Med. 2016 Sep;4(5):527-539.

PubMed [citation]
PMID:
27957503
PMCID:
PMC5023938

Details of each submission

From Counsyl, SCV000796216.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024