NM_007123.5(USH2A):c.895del (p.Gln299fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 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:
RCV001389816.1

Allele description [Variation Report for NM_007123.5(USH2A):c.895del (p.Gln299fs)]

NM_007123.5(USH2A):c.895del (p.Gln299fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_007123.5(USH2A):c.895del (p.Gln299fs)
HGVS:
  • NC_000001.11:g.216325555del
  • NG_009497.1:g.102844del
  • NM_007123.5:c.895del
  • NM_206933.3:c.895del
  • NP_009054.5:p.Gln299fs
  • NP_996816.2:p.Gln299fs
  • NC_000001.10:g.216498895del
  • NC_000001.10:g.216498897del
  • NM_206933.2:c.895delC
Protein change:
Q299fs
Links:
dbSNP: rs1338169194
NCBI 1000 Genomes Browser:
rs1338169194
Molecular consequence:
  • NM_007123.5:c.895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_206933.3:c.895del - 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
SCV001591299Invitaecriteria provided, single submitter
Pathogenic
(Oct 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

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]
PMID:
28041643
PMCID:
PMC5223092

Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

Sengillo JD, Cabral T, Schuerch K, Duong J, Lee W, Boudreault K, Xu Y, Justus S, Sparrow JR, Mahajan VB, Tsang SH.

Sci Rep. 2017 Sep 11;7(1):11170. doi: 10.1038/s41598-017-11679-y.

PubMed [citation]
PMID:
28894305
PMCID:
PMC5593892
See all PubMed Citations (7)

Details of each submission

From Invitae, SCV001591299.1

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

Description

This sequence change creates a premature translational stop signal (p.Gln299Asnfs*37) 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 individual(s) with USH2A-related conditions (PMID: 28041643, 28894305). ClinVar contains an entry for this variant (Variation ID: 438031). 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 8, 2021

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