NM_206933.4(USH2A):c.3435del (p.Val1147fs) AND Usher syndrome type 2A

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 3, 2018
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:: RCV000041828.5

Allele description [Variation Report for NM_206933.4(USH2A):c.3435del (p.Val1147fs)]

NM_206933.4(USH2A):c.3435del (p.Val1147fs)

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.3435del (p.Val1147fs)

HGVS:

NC_000001.11:g.216200003del
NG_009497.2:g.228446del
NM_007123.6:c.3435del
NM_206933.4:c.3435delMANE SELECT
NP_009054.6:p.Val1147fs
NP_996816.3:p.Val1147fs
NC_000001.10:g.216373345del
NC_000001.10:g.216373345delT
NG_009497.1:g.228394del
NM_206933.2:c.3435delA
c.3435delA
p.Val1147fs

Protein change:

V1147fs

Links:

dbSNP: rs397518012

NCBI 1000 Genomes Browser:

rs397518012

Molecular consequence:

NM_007123.6:c.3435del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_206933.4:c.3435del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Usher syndrome type 2A
Synonyms:: USHER SYNDROME, TYPE IIA; RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF
Identifiers:: MONDO: MONDO:0010169; MedGen: C1848634; Orphanet: 231178; Orphanet: 886; OMIM: 276901

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000863932	Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	no assertion criteria provided	Pathogenic (Sep 3, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000863932

Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

no assertion criteria provided

Pathogenic
(Sep 3, 2018)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000863932.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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