NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr) AND Usher syndrome, type 2A

Clinical significance:Benign (Last evaluated: Jul 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001276254.2

Allele description [Variation Report for NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr)]

NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr)

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.4994T>C (p.Ile1665Thr)
Other names:
p.I1665T:ATC>ACC
HGVS:
  • NC_000001.11:g.216084871A>G
  • NG_009497.1:g.343526T>C
  • NG_009497.2:g.343578T>C
  • NM_007123.5:c.*90367T>C
  • NM_206933.4:c.4994T>CMANE SELECT
  • NM_206933.4:c.4994T>CMANE SELECT
  • NP_996816.3:p.Ile1665Thr
  • NP_996816.3:p.Ile1665Thr
  • NC_000001.10:g.216258213A>G
  • NC_000001.10:g.216258213A>G
  • NM_206933.2:c.4994T>C
  • NM_206933.3:c.4994T>C
  • O75445:p.Ile1665Thr
  • c.4994T>C
Protein change:
I1665T
Links:
UniProtKB: O75445#VAR_038362; dbSNP: rs56222536
NCBI 1000 Genomes Browser:
rs56222536
Molecular consequence:
  • NM_007123.5:c.*90367T>C - genic downstream transcript variant - [Sequence Ontology: SO:0002152]
  • NM_206933.4:c.4994T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001462262Natera, Inc.no assertion criteria providedBenign
(Sep 16, 2020)
germlineclinical testing

SCV001750327Nilou-Genome Labcriteria provided, single submitter
Benign
(Jul 1, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Natera, Inc., SCV001462262.1

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

From Nilou-Genome Lab, SCV001750327.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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