U.S. flag

An official website of the United States government

NM_004004.6(GJB2):c.*1291_*1294del AND Nonsyndromic Hearing Loss, Dominant

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000319140.5

Allele description [Variation Report for NM_004004.6(GJB2):c.*1291_*1294del]

NM_004004.6(GJB2):c.*1291_*1294del

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.*1291_*1294del
HGVS:
  • NC_000013.11:g.20187610_20187613del
  • NG_008358.1:g.10366_10369del
  • NM_004004.6:c.*1291_*1294delMANE SELECT
  • LRG_1350t1:c.*1291_*1294del
  • LRG_1350:g.10366_10369del
  • NC_000013.10:g.20761749_20761752del
  • NM_004004.5:c.*1291_*1294delAGTA
Links:
dbSNP: rs886050025
NCBI 1000 Genomes Browser:
rs886050025
Molecular consequence:
  • NM_004004.6:c.*1291_*1294del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Nonsyndromic Hearing Loss, Dominant
Identifiers:
MedGen: CN239435

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
SCV000382874Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000382874.2

#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: Oct 26, 2024