NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jul 13, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000994245.4

Allele description [Variation Report for NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del)]

NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del)
HGVS:
  • NC_000001.11:g.215674570_215674578del
  • NG_009497.1:g.753821_753829del
  • NG_009497.2:g.753873_753881del
  • NM_206933.4:c.13335_13343delMANE SELECT
  • NP_996816.3:p.Glu4445_Met4447del
  • NC_000001.10:g.215847910_215847918del
  • NC_000001.10:g.215847912_215847920del
Links:
dbSNP: rs111033408
NCBI 1000 Genomes Browser:
rs111033408
Molecular consequence:
  • NM_206933.4:c.13335_13343del - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001147664CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Oct 1, 2016)
germlineclinical testing

Citation Link,

SCV001574884Invitaecriteria provided, single submitter
Likely pathogenic
(Jul 13, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
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

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K.

Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.

PubMed [citation]
PMID:
30718709
PMCID:
PMC6362094
See all PubMed Citations (3)

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001147664.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Invitae, SCV001574884.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant, c.13335_13347delinsCTTG, is a complex variant that results in the deletion of five and insertion of two amino acids in the USH2A protein (p.Glu4445_Ser4449delinsAspLeu) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 28041643, 30718709, Invitae). ClinVar contains an entry for this variant (Variation ID: 438013) Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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

Last Updated: Nov 27, 2021

Support Center