NM_206933.4(USH2A):c.236_239dup (p.Gln81fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001389817.1

Allele description [Variation Report for NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)]

NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
HGVS:
  • NC_000001.11:g.216422098_216422101dup
  • NG_009497.1:g.6296_6299dup
  • NG_009497.2:g.6348_6351dup
  • NM_007123.6:c.236_239dup
  • NM_206933.4:c.236_239dupMANE SELECT
  • NP_009054.6:p.Gln81fs
  • NP_996816.3:p.Gln81fs
  • NC_000001.10:g.216595439_216595440insGTAC
  • NC_000001.10:g.216595440_216595443dup
  • NM_206933.2:c.236_239dup
  • NM_206933.2:c.236_239dupGTAC
Protein change:
Q81fs
Links:
dbSNP: rs1553258097
NCBI 1000 Genomes Browser:
rs1553258097
Molecular consequence:
  • NM_007123.6:c.236_239dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_206933.4:c.236_239dup - 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
SCV001591301Invitaecriteria provided, single submitter
Pathogenic
(Jul 1, 2020)
germlineclinical testing

PubMed (8)
[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

Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.

Adato A, Weston MD, Berry A, Kimberling WJ, Bonne-Tamir A.

Hum Mutat. 2000 Apr;15(4):388.

PubMed [citation]
PMID:
10738000

The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry.

Behar DM, Davidov B, Brownstein Z, Ben-Yosef T, Avraham KB, Shohat M.

Genet Test Mol Biomarkers. 2014 Feb;18(2):123-6. doi: 10.1089/gtmb.2013.0328. Epub 2013 Dec 24.

PubMed [citation]
PMID:
24367894
PMCID:
PMC3926139
See all PubMed Citations (8)

Details of each submission

From Invitae, SCV001591301.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

This sequence change creates a premature translational stop signal (p.Gln81Tyrfs*28) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with USH2A-related disease (PMID: 10738000, 24367894, 29490346). ClinVar contains an entry for this variant (Variation ID: 552849). 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: Nov 27, 2021

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