U.S. flag

An official website of the United States government

NM_206933.4(USH2A):c.612dup (p.Arg205fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 19, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001060832.9

Allele description [Variation Report for NM_206933.4(USH2A):c.612dup (p.Arg205fs)]

NM_206933.4(USH2A):c.612dup (p.Arg205fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.612dup (p.Arg205fs)
HGVS:
  • NC_000001.11:g.216418556dup
  • NG_009497.2:g.9896dup
  • NM_007123.6:c.612dup
  • NM_206933.4:c.612dupMANE SELECT
  • NP_009054.6:p.Arg205fs
  • NP_996816.3:p.Arg205fs
  • NC_000001.10:g.216591894_216591895insC
  • NC_000001.10:g.216591898dup
  • NG_009497.1:g.9844dup
  • NM_206933.2:c.612dup
Protein change:
R205fs
Links:
dbSNP: rs2039614529
NCBI 1000 Genomes Browser:
rs2039614529
Molecular consequence:
  • NM_007123.6:c.612dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_206933.4:c.612dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV001225546Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Oct 19, 2023)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV003803586GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Aug 12, 2022)
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

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ.

Am J Hum Genet. 2000 Apr;66(4):1199-210. Epub 2000 Mar 22. Erratum in: Am J Hum Genet 2000 Jun;66(6):2020. Greenburg J [corrected to Greenberg J].

PubMed [citation]
PMID:
10729113
PMCID:
PMC1288187

Identification of novel USH2A mutations: implications for the structure of USH2A protein.

Dreyer B, Tranebjaerg L, Rosenberg T, Weston MD, Kimberling WJ, Nilssen O.

Eur J Hum Genet. 2000 Jul;8(7):500-6.

PubMed [citation]
PMID:
10909849
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001225546.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Arg205Glufs*11) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 18665195). This variant is also known as c.612_613insG (p.R205EfsX11). ClinVar contains an entry for this variant (Variation ID: 855548). 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, SCV003803586.1

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

Description

Frameshift 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 significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32037395, 18665195)

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

Last Updated: Sep 29, 2024