NM_206933.2(USH2A):c.13440G>A (p.Arg4480=) AND not specified

Clinical significance:Benign (Last evaluated: Oct 16, 2013)

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:
RCV000041742.6

Allele description [Variation Report for NM_206933.2(USH2A):c.13440G>A (p.Arg4480=)]

NM_206933.2(USH2A):c.13440G>A (p.Arg4480=)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.2(USH2A):c.13440G>A (p.Arg4480=)
HGVS:
  • NC_000001.11:g.215674471C>T
  • NG_009497.1:g.753926G>A
  • NM_206933.2:c.13440G>A
  • NP_996816.2:p.Arg4480=
  • NC_000001.10:g.215847813C>T
  • NP_996816.2:p.(=)
  • c.13440G>A
  • p.Arg4480Arg
Links:
dbSNP: rs111033378
NCBI 1000 Genomes Browser:
rs111033378
Molecular consequence:
  • NM_206933.2:c.13440G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
21

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
SCV000065438Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Apr 30, 2012)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV000114878EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Oct 16, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided2121not providednot providednot providedclinical testing

Citations

PubMed

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O.

Hum Mutat. 2008 Mar;29(3):451. doi: 10.1002/humu.9524.

PubMed [citation]
PMID:
18273898

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL.

J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27.

PubMed [citation]
PMID:
20507924
PMCID:
PMC3070405
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000065438.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided21not providednot providedclinical testing PubMed (3)

Description

Arg4480Arg in exon 63 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, has been identified in 0.7% (46/7020) of European American chromosomes and 0.1% (5/3738) of African American chromosomes from a broad population by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; dbSNP rs111033378), and it has been listed as benign in two publications (Dreyer 2008, McGee 2010).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided21not provided21not provided

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000114878.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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