NM_206933.4(USH2A):c.13834dup (p.Cys4612fs) AND Retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 1, 2023
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:: RCV003890514.1

Allele description [Variation Report for NM_206933.4(USH2A):c.13834dup (p.Cys4612fs)]

NM_206933.4(USH2A):c.13834dup (p.Cys4612fs)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.13834dup (p.Cys4612fs)

HGVS:

NC_000001.11:g.215671271dup
NG_009497.2:g.757178dup
NM_206933.4:c.13834dupMANE SELECT
NP_996816.3:p.Cys4612fs
NC_000001.10:g.215844613dup
NM_206933.4:c.13834dupTMANE SELECT

Protein change:

C4612fs

Molecular consequence:

NM_206933.4:c.13834dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Retinal dystrophy
Synonyms:: Inherited retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

Recent activity

Clear Turn Off Turn On

Asyneuma argutum isolate CAM516 petB-petD intergenic spacer, partial sequence; a...
Asyneuma argutum isolate CAM516 petB-petD intergenic spacer, partial sequence; and petD protein (petD) gene, exon and partial cds; chloroplast
gi|409244389|gb|JX914988.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004707234	Dept Of Ophthalmology, Nagoya University	criteria provided, single submitter (Submitter's publication)	Likely pathogenic (Oct 1, 2023)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004707234

Dept Of Ophthalmology, Nagoya University

criteria provided, single submitter

(Submitter's publication)

Likely pathogenic
(Oct 1, 2023)

germline

research

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	research

Details of each submission

From Dept Of Ophthalmology, Nagoya University, SCV004707234.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	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: Jun 23, 2024

ClinVar

Relating variation to medicine