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NM_001384140.1(PCDH15):c.394dup (p.Glu132fs) AND Usher syndrome type 1G

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000055969.3

Allele description [Variation Report for NM_001384140.1(PCDH15):c.394dup (p.Glu132fs)]

NM_001384140.1(PCDH15):c.394dup (p.Glu132fs)

Gene:
PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10q21.1
Genomic location:
Preferred name:
NM_001384140.1(PCDH15):c.394dup (p.Glu132fs)
HGVS:
  • NC_000010.11:g.54369200dup
  • NG_009191.3:g.1264983dup
  • NM_001142763.2:c.409dup
  • NM_001142764.2:c.394dup
  • NM_001142765.2:c.394dup
  • NM_001142766.2:c.394dup
  • NM_001142767.2:c.394dup
  • NM_001142768.2:c.328dup
  • NM_001142769.3:c.409dup
  • NM_001142770.3:c.394dup
  • NM_001142771.2:c.409dup
  • NM_001142772.2:c.394dup
  • NM_001142773.2:c.328dup
  • NM_001354404.2:c.328dup
  • NM_001354411.2:c.394dup
  • NM_001354420.2:c.394dup
  • NM_001354429.2:c.394dup
  • NM_001354430.2:c.394dup
  • NM_001384140.1:c.394dupMANE SELECT
  • NM_033056.4:c.394dup
  • NP_001136235.1:p.Glu137fs
  • NP_001136236.1:p.Glu132fs
  • NP_001136237.1:p.Glu132fs
  • NP_001136238.1:p.Glu132fs
  • NP_001136239.1:p.Glu132fs
  • NP_001136240.1:p.Glu110fs
  • NP_001136241.1:p.Glu137fs
  • NP_001136242.1:p.Glu132fs
  • NP_001136243.1:p.Glu137fs
  • NP_001136244.1:p.Glu132fs
  • NP_001136245.1:p.Glu110fs
  • NP_001341333.1:p.Glu110fs
  • NP_001341340.1:p.Glu132fs
  • NP_001341349.1:p.Glu132fs
  • NP_001341358.1:p.Glu132fs
  • NP_001341359.1:p.Glu132fs
  • NP_001371069.1:p.Glu132fs
  • NP_149045.3:p.Glu132fs
  • NC_000010.10:g.56128960dup
  • NM_033056.3:c.394dupG
Protein change:
E110fs
Links:
dbSNP: rs397515566
NCBI 1000 Genomes Browser:
rs397515566
Molecular consequence:
  • NM_001142763.2:c.409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001142764.2:c.394dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001142765.2:c.394dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001142766.2:c.394dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001142767.2:c.394dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001142768.2:c.328dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001142769.3:c.409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001142770.3:c.394dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001142771.2:c.409dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001142772.2:c.394dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001142773.2:c.328dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354404.2:c.328dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354411.2:c.394dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354420.2:c.394dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354429.2:c.394dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354430.2:c.394dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001384140.1:c.394dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033056.4:c.394dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Usher syndrome type 1G
Synonyms:
USHER SYNDROME, TYPE IG, MILD
Identifiers:
MONDO: MONDO:0011748; MedGen: C1847089; Orphanet: 231169; Orphanet: 886; OMIM: 606943

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000087016GeneReviews
no classification provided
not providedunknownliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C.

Hum Mol Genet. 2003 Mar 1;12(5):463-71.

PubMed [citation]
PMID:
12588794

Usher Syndrome Type I.

Koenekoop RK, Arriaga MA, Trzupek KM, Lentz JJ.

1999 Dec 10 [updated 2020 Oct 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301442

Details of each submission

From GeneReviews, SCV000087016.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Oct 8, 2022