NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs) AND Usher syndrome type 2

Clinical significance:Pathogenic (Last evaluated: Jan 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001199803.1

Allele description [Variation Report for NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)]

NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)
HGVS:
  • NC_000001.11:g.216048570TC[3]
  • NC_000001.11:g.216048570_216048571TC[3]
  • NG_009497.1:g.379825AG[3]
  • NG_009497.2:g.379877AG[3]
  • NM_206933.4:c.6127_6128dupMANE SELECT
  • NP_996816.3:p.Ser2043fs
  • NC_000001.10:g.216221912TC[3]
  • NM_206933.2:c.6127_6128dup
Protein change:
S2043fs
Molecular consequence:
  • NM_206933.4:c.6127_6128dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Usher syndrome type 2
Identifiers:
MONDO: MONDO:0016484; MedGen: C0339534

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
SCV001162743Molecular Genetics Laboratory,Institute for Ophthalmic Researchcriteria provided, single submitter
Pathogenic
(Jan 9, 2020)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Genetics Laboratory,Institute for Ophthalmic Research, SCV001162743.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center