NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 21, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001216609.2

Allele description [Variation Report for NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)]

NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
HGVS:
  • NC_000001.11:g.215674704_215674705del
  • NG_009497.1:g.753693_753694del
  • NG_009497.2:g.753745_753746del
  • NM_206933.4:c.13207_13208delMANE SELECT
  • NP_996816.3:p.Gly4403fs
  • NC_000001.10:g.215848045_215848046del
  • NC_000001.10:g.215848046_215848047del
  • NM_206933.2:c.13207_13208del
  • NM_206933.2:c.13207_13208delGG
Protein change:
G4403fs
Links:
dbSNP: rs746447649
NCBI 1000 Genomes Browser:
rs746447649
Molecular consequence:
  • NM_206933.4:c.13207_13208del - 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
SCV001388414Invitaecriteria provided, single submitter
Pathogenic
(Apr 21, 2020)
germlineclinical testing

PubMed (9)
[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

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

Baux D, Larrieu L, Blanchet C, Hamel C, Ben Salah S, Vielle A, Gilbert-Dussardier B, Holder M, Calvas P, Philip N, Edery P, Bonneau D, Claustres M, Malcolm S, Roux AF.

Hum Mutat. 2007 Aug;28(8):781-9.

PubMed [citation]
PMID:
17405132

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O.

Hum Mutat. 2008 Mar;29(3):451. doi: 10.1002/humu.9524.

PubMed [citation]
PMID:
18273898
See all PubMed Citations (9)

Details of each submission

From Invitae, SCV001388414.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

This sequence change creates a premature translational stop signal (p.Gly4403Profs*15) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs746447649, ExAC 0.003%). This variant has been reported as in combination with another USH2A variant in individuals affected with Usher syndrome type II (PMID: 17405132, 18273898, 22135276, 27318125). ClinVar contains an entry for this variant (Variation ID: 558124). 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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