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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 28, 2017
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:: RCV000664608.3

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:: 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

Name:: Retinitis pigmentosa 39 (RP39)
Identifiers:: MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

Recent activity

Clear Turn Off Turn On

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
SCV000788602	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Pathogenic (Apr 28, 2017)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25558175, 22009552, 27460420 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000788602

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Pathogenic
(Apr 28, 2017)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.

Sodi A, Mariottini A, Passerini I, Murro V, Tachyla I, Bianchi B, Menchini U, Torricelli F.

Mol Vis. 2014;20:1717-31.

PubMed [citation]

PMID:: 25558175
PMCID:: PMC4279600

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

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000788602.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: Nov 30, 2024

ClinVar

Relating variation to medicine