NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Dec 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000671627.1

Allele description [Variation Report for NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)]

NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
HGVS:
  • NC_000001.11:g.215965369A>C
  • NG_009497.1:g.463028T>G
  • NG_009497.2:g.463080T>G
  • NM_206933.4:c.7068T>GMANE SELECT
  • NP_996816.3:p.Asn2356Lys
  • NC_000001.10:g.216138711A>C
  • NM_206933.2:c.7068T>G
  • c.7068T>G
Protein change:
N2356K
Links:
dbSNP: rs200038092
NCBI 1000 Genomes Browser:
rs200038092
Molecular consequence:
  • NM_206933.4:c.7068T>G - 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
Name:
Retinitis pigmentosa 39 (RP39)
Identifiers:
MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000796617Counsylcriteria provided, single submitter
Uncertain significance
(Dec 20, 2017)
unknownclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.

Moteki H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Nishio S, Hattori M, Usami S, Smith RJH.

Clin Genet. 2016 Apr;89(4):466-472. doi: 10.1111/cge.12677. Epub 2015 Oct 6.

PubMed [citation]
PMID:
26346818
PMCID:
PMC4783301

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Miyagawa M, Naito T, Nishio SY, Kamatani N, Usami S.

PLoS One. 2013;8(8):e71381. doi: 10.1371/journal.pone.0071381.

PubMed [citation]
PMID:
23967202
PMCID:
PMC3742761
See all PubMed Citations (7)

Details of each submission

From Counsyl, SCV000796617.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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