U.S. flag

An official website of the United States government

NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys) AND Usher syndrome type 2A

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001271132.1

Allele description [Variation Report for NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)]

NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)
HGVS:
  • NC_000001.11:g.215728362C>T
  • NG_009497.2:g.700087G>A
  • NM_206933.4:c.11734G>AMANE SELECT
  • NP_996816.3:p.Glu3912Lys
  • NC_000001.10:g.215901704C>T
  • NG_009497.1:g.700035G>A
  • NM_206933.2:c.11734G>A
  • NM_206933.3:c.11734G>A
Protein change:
E3912K
Links:
dbSNP: rs142617606
NCBI 1000 Genomes Browser:
rs142617606
Molecular consequence:
  • NM_206933.4:c.11734G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome type 2A
Synonyms:
USHER SYNDROME, TYPE IIA; RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF
Identifiers:
MONDO: MONDO:0010169; MedGen: C1848634; Orphanet: 231178; Orphanet: 886; OMIM: 276901

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001451984Natera, Inc.
no assertion criteria provided
Uncertain significance
(Sep 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001451984.1

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

Last Updated: Sep 29, 2024