NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 23, 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:
RCV001039961.3

Allele description [Variation Report for NM_206933.3(USH2A):c.100C>T (p.Arg34Ter)]

NM_206933.3(USH2A):c.100C>T (p.Arg34Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter)
HGVS:
  • NC_000001.11:g.216422237G>A
  • NG_009497.1:g.6160C>T
  • NM_007123.5:c.100C>T
  • NM_206933.3:c.100C>T
  • NP_009054.5:p.Arg34Ter
  • NP_996816.2:p.Arg34Ter
  • NC_000001.10:g.216595579G>A
  • NM_206933.2:c.100C>T
Protein change:
R34*
Links:
dbSNP: rs772808534
NCBI 1000 Genomes Browser:
rs772808534
Molecular consequence:
  • NM_007123.5:c.100C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_206933.3:c.100C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001203513Invitaecriteria provided, single submitter
Pathogenic
(Jul 9, 2020)
germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

SCV001447949Institute of Medical Genetics and Applied Genomics, University Hospital Tübingencriteria provided, single submitter
Pathogenic
(Oct 23, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot provided1not providedclinical testing

Citations

PubMed

Novel mutations in MYO7A and USH2A in Usher syndrome.

Maubaret C, Griffoin JM, Arnaud B, Hamel C.

Ophthalmic Genet. 2005 Mar;26(1):25-9.

PubMed [citation]
PMID:
15823922

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
See all PubMed Citations (8)

Details of each submission

From Invitae, SCV001203513.2

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

Description

This sequence change creates a premature translational stop signal (p.Arg34*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs772808534, ExAC 0.002%). This variant has been observed in several individuals affected with Usher syndrome or retinitis pigmentosa (PMID: 10909849, 15823922, 28041643). ClinVar contains an entry for this variant (Variation ID: 438000). 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

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001447949.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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