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NM_004004.6(GJB2):c.645del (p.Arg216fs) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 3, 2017
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:
RCV000664954.1

Allele description [Variation Report for NM_004004.6(GJB2):c.645del (p.Arg216fs)]

NM_004004.6(GJB2):c.645del (p.Arg216fs)

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.645del (p.Arg216fs)
HGVS:
  • NC_000013.11:g.20188938del
  • NG_008358.1:g.9039del
  • NM_004004.5:c.645del
  • NM_004004.6:c.645delMANE SELECT
  • NP_003995.2:p.Arg216fs
  • LRG_1350t1:c.645del
  • LRG_1350:g.9039del
  • LRG_1350p1:p.Arg216fs
  • NC_000013.10:g.20763076delA
  • NC_000013.10:g.20763077del
  • NM_004004.5:c.645delT
  • p.Arg216AspfsX18
Protein change:
R216fs
Links:
dbSNP: rs1555341794
NCBI 1000 Genomes Browser:
rs1555341794
Molecular consequence:
  • NM_004004.6:c.645del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A)
Synonyms:
Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009076; MedGen: C2673759; Orphanet: 90636; OMIM: 220290

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000788998Counsyl
no assertion criteria provided
Likely pathogenic
(Jan 3, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations.

King PJ, Ouyang X, Du L, Yan D, Angeli SI, Liu XZ.

Otolaryngol Head Neck Surg. 2012 Nov;147(5):932-6. doi: 10.1177/0194599812453553. Epub 2012 Jul 11.

PubMed [citation]
PMID:
22785241
PMCID:
PMC4511085

Details of each submission

From Counsyl, SCV000788998.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024