NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) AND Usher syndrome, type 2A

Clinical significance:Likely pathogenic (Last evaluated: Aug 28, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000210323.2

Allele description [Variation Report for NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln)]

NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln)
HGVS:
  • NC_000001.11:g.216000442G>T
  • NG_009497.1:g.427955C>A
  • NM_206933.3:c.6446C>A
  • NP_996816.2:p.Pro2149Gln
  • NC_000001.10:g.216173784G>T
  • NM_206933.2:c.6446C>A
  • NM_206933.3(USH2A):c.6446C>A
  • p.Pro2149Gln
Protein change:
P2149Q
Links:
dbSNP: rs869312182
NCBI 1000 Genomes Browser:
rs869312182
Molecular consequence:
  • NM_206933.3:c.6446C>A - 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
SCV000259095Centre for Genomic Medicine, Manchester,Central Manchester University Hospitalsno assertion criteria providedLikely pathogenic
(Aug 28, 2015)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ellingford JM, Barton S, Bhaskar S, Williams SG, Sergouniotis PI, O'Sullivan J, Lamb JA, Perveen R, Hall G, Newman WG, Bishop PN, Roberts SA, Leach R, Tearle R, Bayliss S, Ramsden SC, Nemeth AH, Black GC.

Ophthalmology. 2016 May;123(5):1143-50. doi: 10.1016/j.ophtha.2016.01.009. Epub 2016 Feb 9.

PubMed [citation]
PMID:
26872967
PMCID:
PMC4845717

Details of each submission

From Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals, SCV000259095.1

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

Last Updated: Oct 8, 2021

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