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NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) AND Usher syndrome type 2A

Germline classification:
Uncertain significance (1 submission)
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:
RCV000256390.2

Allele description [Variation Report for NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)]

NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)

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.5516T>A (p.Val1839Glu)
HGVS:
  • NC_000001.11:g.216078145A>T
  • NG_009497.2:g.350304T>A
  • NM_206933.4:c.5516T>AMANE SELECT
  • NP_996816.3:p.Val1839Glu
  • NC_000001.10:g.216251487A>T
  • NG_009497.1:g.350252T>A
  • NM_206933.1:c.5516T>A
  • NM_206933.2:c.5516T>A
  • NM_206933.3(USH2A):c.5516T>A
  • p.Val1839Glu
Protein change:
V1839E
Links:
dbSNP: rs886039867
NCBI 1000 Genomes Browser:
rs886039867
Molecular consequence:
  • NM_206933.4:c.5516T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome type 2A
Synonyms:
USHER SYNDROME, TYPE IIA; RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF
Identifiers:
MONDO: MONDO:0010169; MedGen: C1848634; Orphanet: 231178; Orphanet: 886; OMIM: 276901

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000323137Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
no assertion criteria provided
Uncertain significancegermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000323137.1

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

Last Updated: Oct 20, 2024