NM_206933.4(USH2A):c.4758+3A>G AND Usher syndrome, type 2A

Clinical significance:Likely benign (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000986536.2

Allele description [Variation Report for NM_206933.4(USH2A):c.4758+3A>G]

NM_206933.4(USH2A):c.4758+3A>G

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.4758+3A>G
HGVS:
  • NC_000001.11:g.216097080T>C
  • NG_009497.1:g.331317A>G
  • NG_009497.2:g.331369A>G
  • NM_206933.4:c.4758+3A>GMANE SELECT
  • NC_000001.10:g.216270422T>C
  • NM_206933.2:c.4758+3A>G
  • NM_206933.3:c.4758+3A>G
Links:
dbSNP: rs117798425
NCBI 1000 Genomes Browser:
rs117798425
Molecular consequence:
  • NM_206933.4:c.4758+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Usher syndrome, type 2A (USH2A)
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001135554Mendelicscriteria provided, single submitter
Likely benign
(May 28, 2019)
unknownclinical testing

Citation Link,

SCV001455638Natera, Inc.no assertion criteria providedBenign
(Jun 24, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001135554.1

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

From Natera, Inc., SCV001455638.1

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

Last Updated: Nov 27, 2021

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