NM_005709.4(USH1C):c.1220del (p.Gly407fs) AND Usher syndrome type 1C

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 12, 2020
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:: RCV001829866.2

Allele description [Variation Report for NM_005709.4(USH1C):c.1220del (p.Gly407fs)]

NM_005709.4(USH1C):c.1220del (p.Gly407fs)

Gene:

USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_005709.4(USH1C):c.1220del (p.Gly407fs)

HGVS:

NC_000011.10:g.17517467del
NG_011883.2:g.31952del
NM_001297764.2:c.1163del
NM_005709.4:c.1220del
NM_153676.4:c.1211-1175delMANE SELECT
NP_001284693.1:p.Gly388fs
NP_005700.2:p.Gly407fs
NC_000011.9:g.17539012del
NC_000011.9:g.17539014del
NG_011883.1:g.31952del
NM_005709.3:c.1220del
NM_005709.3:c.1220delG

Protein change:

G388fs

Links:

OMIM: 605242.0013; dbSNP: rs1207247951

NCBI 1000 Genomes Browser:

rs1207247951

Molecular consequence:

NM_001297764.2:c.1163del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005709.4:c.1220del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_153676.4:c.1211-1175del - intron variant - [Sequence Ontology: SO:0001627]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000056387	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002084534	Natera, Inc.	no assertion criteria provided	Pathogenic (Aug 12, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000056387

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2012)

germline

literature only

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

SCV002084534

Natera, Inc.

no assertion criteria provided

Pathogenic
(Aug 12, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.

Khateb S, Zelinger L, Ben-Yosef T, Merin S, Crystal-Shalit O, Gross M, Banin E, Sharon D.

PLoS One. 2012;7(12):e51566. doi: 10.1371/journal.pone.0051566. Epub 2012 Dec 12.

PubMed [citation]

PMID:: 23251578
PMCID:: PMC3520954

Details of each submission

From OMIM, SCV000056387.3

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

Description

In 12 patients from 8 Israeli families of Yemenite Jewish origin with retinitis pigmentosa and late-onset hearing loss (USH1C; 276904), Khateb et al. (2012) identified homozygosity for a 1-bp deletion (1220delG) in alternative exon 15 of the USH1C gene, predicted to cause a frameshift (Gly407GlufsTer56). Extensive RT-PCR analysis revealed that the novel splice variant includes all USH1C coding exons and is ubiquitously expressed at relatively low levels.

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

From Natera, Inc., SCV002084534.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Feb 20, 2024

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