NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Nov 7, 2017)

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:
RCV000152625.1

Allele description [Variation Report for NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)]

NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
HGVS:
  • NC_000001.11:g.216200043C>T
  • NG_009497.1:g.228354G>A
  • NG_009497.2:g.228406G>A
  • NM_007123.6:c.3395G>A
  • NM_206933.4:c.3395G>AMANE SELECT
  • NP_009054.6:p.Gly1132Asp
  • NP_996816.3:p.Gly1132Asp
  • NC_000001.10:g.216373385C>T
  • NM_007123.5:c.3395G>A
  • NM_206933.2:c.3395G>A
  • NM_206933.3:c.3395G>A
Protein change:
G1132D
Links:
dbSNP: rs34596189
NCBI 1000 Genomes Browser:
rs34596189
Molecular consequence:
  • NM_007123.6:c.3395G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.3395G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000201938Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(May 7, 2012)
germlineclinical testing

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

SCV000854892EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Nov 7, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided44not providednot providednot providedclinical testing
not providedgermlineunknown2not providednot 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, SCV000201938.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)

Description

Gly1132Asp in Exon 17 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (27/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs34596189).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided4not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000854892.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 20, 2021

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