NM_206933.4(USH2A):c.5013C>A (p.Gly1671=) AND not specified

Clinical significance:Benign (Last evaluated: May 6, 2015)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000041853.8

Allele description [Variation Report for NM_206933.4(USH2A):c.5013C>A (p.Gly1671=)]

NM_206933.4(USH2A):c.5013C>A (p.Gly1671=)

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.5013C>A (p.Gly1671=)
Other names:
p.G1671G:GGC>GGA
HGVS:
  • NC_000001.11:g.216084852G>T
  • NG_009497.1:g.343545C>A
  • NG_009497.2:g.343597C>A
  • NM_206933.4:c.5013C>AMANE SELECT
  • NP_996816.3:p.Gly1671=
  • NC_000001.10:g.216258194G>T
  • NM_007123.5:c.*90386C>A
  • NM_206933.2:c.5013C>A
  • NM_206933.3:c.5013C>A
  • NP_996816.2:p.(=)
  • c.5013C>A
  • p.Gly1671Gly
Links:
dbSNP: rs56110889
NCBI 1000 Genomes Browser:
rs56110889
Observations:
665

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
SCV000065549Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Feb 19, 2008)
germlineclinical testing

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

SCV000114880EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(May 6, 2015)
germlineclinical testing

Citation Link,

SCV000169744GeneDxcriteria provided, single submitter
Benign
(Oct 30, 2013)
germlineclinical testing

Citation Link,

SCV000317206PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided676665not providednot providednot providedclinical testing
not providedgermlineunknown3not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

Aller E, Jaijo T, Beneyto M, Nájera C, Oltra S, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Collado D, Pérez-Garrigues H, Navea A, Millán JM.

J Med Genet. 2006 Nov;43(11):e55.

PubMed [citation]
PMID:
17085681
PMCID:
PMC2563181

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
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000065549.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided676not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided676not provided665not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000114880.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From GeneDx, SCV000169744.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From PreventionGenetics,PreventionGenetics, SCV000317206.1

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

Last Updated: Nov 27, 2021

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