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NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) AND Retinitis pigmentosa 39

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2016
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:
RCV000678635.2

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]
Observations:
1

Condition(s)

Name:
Retinitis pigmentosa 39 (RP39)
Identifiers:
MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804723Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
no assertion criteria provided
Pathogenic
(Sep 1, 2016) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+, SCV000804723.2

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

Last Updated: Oct 20, 2024