NM_206933.4(USH2A):c.7595-2144A>G AND Retinal dystrophy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 1, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001074209.5

Allele description [Variation Report for NM_206933.4(USH2A):c.7595-2144A>G]

NM_206933.4(USH2A):c.7595-2144A>G

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.7595-2144A>G

HGVS:

NC_000001.11:g.215891198T>C
NG_009497.2:g.537251A>G
NM_206933.4:c.7595-2144A>GMANE SELECT
NC_000001.10:g.216064540T>C
NG_009497.1:g.537199A>G
NM_206933.2:c.7595-2144A>G
NM_206933.3:c.7595-2144A>G

Nucleotide change:

IVS40AS, A-G, -2144

Links:

OMIM: 608400.0013; dbSNP: rs786200928

NCBI 1000 Genomes Browser:

rs786200928

Molecular consequence:

NM_206933.4:c.7595-2144A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001239782	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Pathogenic (Mar 18, 2019)	germline	clinical testing	Citation Link,
SCV005071101	Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2021)	germline	clinical testing	PubMed (22) [See all records that cite these PMIDs] 22009552, 23924366, 25404053, 26629787, 29490346, 32326409, 31429209, 31980526, 31456290, 32581362, 32531858, 32037395, 34148116, 33576794, 34948090, 34758253, 34781295, 35266249, 36460718, 36819107, 36785559, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001239782

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Pathogenic
(Mar 18, 2019)

germline

clinical testing

Citation Link,

SCV005071101

Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2021)

germline

clinical testing

PubMed (22)
[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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.

Vaché C, Besnard T, le Berre P, García-García G, Baux D, Larrieu L, Abadie C, Blanchet C, Bolz HJ, Millan J, Hamel C, Malcolm S, Claustres M, Roux AF.

Hum Mutat. 2012 Jan;33(1):104-8. doi: 10.1002/humu.21634. Epub 2011 Nov 16.

PubMed [citation]

PMID:: 22009552

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.

Steele-Stallard HB, Le Quesne Stabej P, Lenassi E, Luxon LM, Claustres M, Roux AF, Webster AR, Bitner-Glindzicz M.

Orphanet J Rare Dis. 2013 Aug 8;8:122. doi: 10.1186/1750-1172-8-122.

PubMed [citation]

PMID:: 23924366
PMCID:: PMC3751126

See all PubMed Citations (22)

Details of each submission

From Blueprint Genetics, SCV001239782.1

#	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

From Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV005071101.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (22)

#	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 1, 2026

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