NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) AND Rare genetic deafness

Clinical significance:Likely pathogenic (Last evaluated: Dec 7, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000041861.2

Allele description [Variation Report for NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)]

NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)

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.5581G>A (p.Gly1861Ser)
Other names:
NM_206933.2(USH2A):c.5581G>A(p.Gly1861Ser); NM_206933.2(USH2A):c.5581G>A
HGVS:
  • NC_000001.11:g.216073292C>T
  • NG_009497.1:g.355105G>A
  • NG_009497.2:g.355157G>A
  • NM_206933.4:c.5581G>AMANE SELECT
  • NP_996816.3:p.Gly1861Ser
  • NC_000001.10:g.216246634C>T
  • NM_206933.2:c.5581G>A
  • O75445:p.Gly1861Ser
  • c.5581G>A
Protein change:
G1861S
Links:
UniProtKB: O75445#VAR_072008; dbSNP: rs375668376
NCBI 1000 Genomes Browser:
rs375668376
Molecular consequence:
  • NM_206933.4:c.5581G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: CN826980; Orphanet: 96210

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000065557Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Dec 7, 2011)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000065557.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The Gly1861Ser variant in USH2A has been identified by our laboratory in one pat ient with Usher syndrome who was a compound heterozygote with a pathogenic USH2A variant (c.8559-2A>G). Therefore, this variant is likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Nov 27, 2021

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