NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 30, 2020)

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:
RCV000802347.5

Allele description [Variation Report for NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)]

NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
HGVS:
  • NC_000001.11:g.215782873G>A
  • NG_009497.1:g.645524C>T
  • NG_009497.2:g.645576C>T
  • NM_206933.4:c.10450C>TMANE SELECT
  • NP_996816.3:p.Arg3484Ter
  • NC_000001.10:g.215956215G>A
  • NM_206933.2:c.10450C>T
  • c.10450C>T
  • p.Arg3484X
Protein change:
R3484*
Links:
dbSNP: rs111033379
NCBI 1000 Genomes Browser:
rs111033379
Molecular consequence:
  • NM_206933.4:c.10450C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000942173Invitaecriteria provided, single submitter
Pathogenic
(Apr 11, 2020)
germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

SCV001793585GeneDxcriteria provided, single submitter
Pathogenic
(Dec 30, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

Huang XF, Xiang P, Chen J, Xing DJ, Huang N, Min Q, Gu F, Tong Y, Pang CP, Qu J, Jin ZB.

PLoS One. 2013 May 30;8(5):e63832. doi: 10.1371/journal.pone.0063832. Print 2013.

PubMed [citation]
PMID:
23737954
PMCID:
PMC3667821
See all PubMed Citations (9)

Details of each submission

From Invitae, SCV000942173.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

This sequence change creates a premature translational stop signal (p.Arg3484*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs111033379, ExAC 0.009%). This variant has been observed in several individuals affected with Usher syndrome (PMID: 18273898, 23737954, 25558175, 29142287). ClinVar contains an entry for this variant (Variation ID: 48348). Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified as Pathogenic.

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

From GeneDx, SCV001793585.1

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 33576794, 31589614, 28559085, 23737954, 25558175, 25525159, 18273898)

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

Last Updated: Nov 27, 2021

Support Center