NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 20, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001242872.2

Allele description [Variation Report for NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)]

NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)
HGVS:
  • NC_000001.10:g.216166370_216166372del
  • NC_000001.11:g.215993029_215993031del
  • NG_009497.1:g.435367_435369del
  • NG_009497.2:g.435419_435421del
  • NM_206933.4:c.6795_6797delMANE SELECT
  • NP_996816.3:p.Glu2265_Tyr2266delinsAsp
  • NC_000001.10:g.216166370_216166372del
  • NC_000001.10:g.216166370_216166372delTAT
  • NC_000001.10:g.216166371_216166373del
  • NM_206933.2:c.6795_6797del
  • NM_206933.2:c.6795_6797delATA
Links:
dbSNP: rs727503723
NCBI 1000 Genomes Browser:
rs727503723
Molecular consequence:
  • NM_206933.4:c.6795_6797del - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001415991Invitaecriteria provided, single submitter
Pathogenic
(Jun 20, 2020)
germlineclinical testing

PubMed (4)
[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

NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

Ge Z, Bowles K, Goetz K, Scholl HP, Wang F, Wang X, Xu S, Wang K, Wang H, Chen R.

Sci Rep. 2015 Dec 15;5:18287. doi: 10.1038/srep18287.

PubMed [citation]
PMID:
26667666
PMCID:
PMC4678898

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Dad S, Rendtorff ND, Tranebjærg L, Grønskov K, Karstensen HG, Brox V, Nilssen Ø, Roux AF, Rosenberg T, Jensen H, Møller LB.

Mol Genet Genomic Med. 2016 Sep;4(5):527-539.

PubMed [citation]
PMID:
27957503
PMCID:
PMC5023938
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001415991.2

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

Description

This variant, c.6795_6797del, results in the deletion of 2 and insertion of 1 amino acid(s) of the USH2A protein (p.Glu2265_Tyr2266delinsAsp), but otherwise preserves the integrity of the reading frame. 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 individual(s) with Usher syndrome (PMID: 26667666, 27957503, 22135276). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 166478). 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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