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NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) AND Usher syndrome type 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 23, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001003277.2

Allele description [Variation Report for NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)]

NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)

Genes:
LOC122152296:Sharpr-MPRA regulatory region 8762 [Gene]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
HGVS:
  • NC_000001.11:g.216246592A>C
  • NG_009497.2:g.181857T>G
  • NG_076570.2:g.210A>C
  • NM_007123.6:c.2802T>G
  • NM_206933.4:c.2802T>GMANE SELECT
  • NP_009054.5:p.Cys934Trp
  • NP_009054.6:p.Cys934Trp
  • NP_996816.2:p.Cys934Trp
  • NP_996816.3:p.Cys934Trp
  • NC_000001.10:g.216419934A>C
  • NM_007123.5:c.2802T>G
  • NM_206933.2:c.2802T>G
  • NM_206933.3:c.2802T>G
  • O75445:p.Cys934Trp
Protein change:
C934W; CYS934TRP
Links:
UniProtKB: O75445#VAR_072000; OMIM: 608400.0016; dbSNP: rs201527662
NCBI 1000 Genomes Browser:
rs201527662
Molecular consequence:
  • NM_007123.6:c.2802T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.2802T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome type 2
Synonyms:
Usher Syndrome, Type II
Identifiers:
MONDO: MONDO:0016484; MedGen: C0339534

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161360Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Likely pathogenic
(Jun 23, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161360.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024