NM_206933.4(USH2A):c.3558del (p.Cys1186fs) AND Rare genetic deafness

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 17, 2011
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:: RCV000824788.4

Allele description [Variation Report for NM_206933.4(USH2A):c.3558del (p.Cys1186fs)]

NM_206933.4(USH2A):c.3558del (p.Cys1186fs)

Genes:

USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.3558del (p.Cys1186fs)

HGVS:

NC_000001.11:g.216199880del
NG_009497.2:g.228569del
NM_007123.6:c.3558del
NM_206933.4:c.3558delMANE SELECT
NP_009054.6:p.Cys1186fs
NP_996816.3:p.Cys1186fs
NC_000001.10:g.216373222del
NC_000001.10:g.216373222delA
NG_009497.1:g.228517del
NM_206933.2:c.3558del
NM_206933.2:c.3558delT
c.3558delT
p.Cys1186fs

Protein change:

C1186fs

Links:

dbSNP: rs397518014

NCBI 1000 Genomes Browser:

rs397518014

Molecular consequence:

NM_007123.6:c.3558del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_206933.4:c.3558del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Rare genetic deafness
Identifiers:: MedGen: C5680250; Orphanet: 96210

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000065526	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Pathogenic (Sep 17, 2011)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20613545, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000065526

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Pathogenic
(Sep 17, 2011)

germline

clinical testing

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	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ.

Genet Med. 2010 Aug;12(8):512-6. doi: 10.1097/GIM.0b013e3181e5afb8.

PubMed [citation]

PMID:: 20613545
PMCID:: PMC3131500

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000065526.6

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

#	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		1	not provided	1	not provided

Last Updated: Oct 26, 2024

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