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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000087016	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 12588794, 20301442

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000087016

GeneReviews

no classification provided

not provided

unknown

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature 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, 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2022

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