NM_206933.4(USH2A):c.3558del (p.Cys1186fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Feb 14, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001213213.2

Allele description [Variation Report for NM_206933.4(USH2A):c.3558del (p.Cys1186fs)]

NM_206933.4(USH2A):c.3558del (p.Cys1186fs)

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.3558del (p.Cys1186fs)
HGVS:
  • NC_000001.11:g.216199880del
  • NG_009497.1:g.228517del
  • NG_009497.2:g.228569del
  • NM_007123.6:c.3558del
  • NM_206933.4:c.3558delMANE SELECT
  • NP_009054.6:p.Cys1186fs
  • NP_996816.3:p.Cys1186fs
  • NC_000001.10:g.216373222del
  • NC_000001.10:g.216373222del
  • NC_000001.10:g.216373222delA
  • NM_206933.2:c.3558del
  • NM_206933.2:c.3558delT
  • c.3558delT
  • p.Cys1186fs
Protein change:
C1186fs
Links:
dbSNP: rs397518014
NCBI 1000 Genomes Browser:
rs397518014
Molecular consequence:
  • NM_007123.6:c.3558del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_206933.4:c.3558del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001384834Invitaecriteria provided, single submitter
Pathogenic
(Feb 14, 2020)
germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

Hartel BP, Löfgren M, Huygen PL, Guchelaar I, Lo-A-Njoe Kort N, Sadeghi AM, van Wijk E, Tranebjærg L, Kremer H, Kimberling WJ, Cremers CW, Möller C, Pennings RJ.

Hear Res. 2016 Sep;339:60-8. doi: 10.1016/j.heares.2016.06.008. Epub 2016 Jun 16.

PubMed [citation]
PMID:
27318125

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ.

Genet Med. 2010 Aug;12(8):512-6. doi: 10.1097/GIM.0b013e3181e5afb8.

PubMed [citation]
PMID:
20613545
PMCID:
PMC3131500
See all PubMed Citations (7)

Details of each submission

From Invitae, SCV001384834.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This sequence change creates a premature translational stop signal (p.Cys1186Trpfs*51) in the USH2A gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in several individuals affected with Usher syndrome (PMID: 27318125, 20613545). ClinVar contains an entry for this variant (Variation ID: 48504). Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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