NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala) AND Usher syndrome, type 2A

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001100751.1

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

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

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_007123.5:c.2414G>C
  • 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_206933.2:c.2414G>C
Protein change:
G805A
Links:
dbSNP: rs587783023
NCBI 1000 Genomes Browser:
rs587783023
Molecular consequence:
  • NM_007123.5:c.2414G>C - missense variant - [Sequence Ontology: SO:0001583]
  • 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001257287Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001257287.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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