NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Mar 1, 2017)

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:
RCV000513450.4

Allele description [Variation Report for NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)]

NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)

Genes:
USH2A-AS2:USH2A antisense RNA 2 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
HGVS:
  • NC_000001.11:g.216084747C>T
  • NG_009497.1:g.343650G>A
  • NG_009497.2:g.343702G>A
  • NM_206933.4:c.5118G>AMANE SELECT
  • NP_996816.3:p.Trp1706Ter
  • NC_000001.10:g.216258089C>T
  • NM_206933.2:c.5118G>A
Protein change:
W1706*
Links:
dbSNP: rs1461319754
NCBI 1000 Genomes Browser:
rs1461319754
Molecular consequence:
  • NM_206933.4:c.5118G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000608525CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Mar 1, 2017)
germlineclinical testing

Citation Link,

SCV000705703EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Feb 9, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000608525.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000705703.2

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

Last Updated: Nov 20, 2021

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