U.S. flag

An official website of the United States government

NM_206933.4(USH2A):c.8559-2A>G AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 12, 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:
RCV000824785.11

Allele description [Variation Report for NM_206933.4(USH2A):c.8559-2A>G]

NM_206933.4(USH2A):c.8559-2A>G

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.8559-2A>G
HGVS:
  • NC_000001.11:g.215877882T>C
  • NG_009497.2:g.550567A>G
  • NM_206933.4:c.8559-2A>GMANE SELECT
  • NC_000001.10:g.216051224T>C
  • NM_206933.2:c.8559-2A>G
  • NM_206933.3:c.8559-2A>G
  • c.8559-2A>G
Links:
dbSNP: rs397518039
NCBI 1000 Genomes Browser:
rs397518039
Molecular consequence:
  • NM_206933.4:c.8559-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000065626Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Sep 12, 2011) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Citations

PubMed

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Dai H, Zhang X, Zhao X, Deng T, Dong B, Wang J, Li Y.

Mol Vis. 2008;14:2067-75. Epub 2008 Nov 17.

PubMed [citation]
PMID:
19023448
PMCID:
PMC2584772

Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.

Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Mizuta K, Mineta H, Minoshima S.

Clin Genet. 2009 Oct;76(4):383-91. doi: 10.1111/j.1399-0004.2009.01257.x. Epub 2009 Sep 8.

PubMed [citation]
PMID:
19737284
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000065626.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (4)

Description

The 8559-2A>G variant in USH2A has been reported in 6 Asian individuals with Ush er type 2 and was absent in 470 Asian control chromosomes (Dai 2008, Nakanishi 2 009). All of these probands were compound heterozygous. This variant is predicte d to cause abnormal splicing because the nucleotide substitution occurs in the i nvariant region of the splice consensus sequence. Furthermore, RT-PCR analysis o f cells from a patient carrying the variant revealed that the variant causes ski pping of exon 43, resulting in a 41 amino acid deletion of the USH2A protein (Na kanishi 2010). In summary, this variant meets our criteria to be classified as p athogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Nov 10, 2024