NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000665419.2

Allele description [Variation Report for NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)]

NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)

Genes:
LOC122152296:Sharpr-MPRA regulatory region 8762 [Gene]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)
HGVS:
  • NC_000001.11:g.216246980C>G
  • NG_009497.1:g.181417G>C
  • NG_009497.2:g.181469G>C
  • NG_076570.1:g.354C>G
  • NM_007123.6:c.2414G>C
  • NM_206933.4:c.2414G>CMANE SELECT
  • NP_009054.5:p.Gly805Ala
  • NP_009054.6:p.Gly805Ala
  • NP_996816.3:p.Gly805Ala
  • NC_000001.10:g.216420322C>G
  • NM_007123.5:c.2414G>C
  • NM_206933.2:c.2414G>C
Protein change:
G805A
Links:
dbSNP: rs587783023
NCBI 1000 Genomes Browser:
rs587783023
Molecular consequence:
  • NM_007123.6:c.2414G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.2414G>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
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
SCV000789539Counsylcriteria provided, single submitter
Uncertain significance
(Feb 9, 2017)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000896273Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?

Kim SY, Kim AR, Kim NKD, Lee C, Kim MY, Jeon EH, Park WY, Choi BY.

Medicine (Baltimore). 2016 Apr;95(14):e3029. doi: 10.1097/MD.0000000000003029.

PubMed [citation]
PMID:
27057829
PMCID:
PMC4998745

Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.

Seong MW, Seo SH, Yu YS, Hwang JM, Cho SI, Ra EK, Park H, Lee SJ, Kim JY, Park SS.

J Mol Diagn. 2015 Jan;17(1):100-5. doi: 10.1016/j.jmoldx.2014.09.003. Epub 2014 Oct 24.

PubMed [citation]
PMID:
25445212
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000789539.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Fulgent Genetics,Fulgent Genetics, SCV000896273.1

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

Last Updated: Dec 4, 2021

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