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NM_001110219.3(GJB6):c.689dup (p.Asn230fs) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Feb 4, 2022
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:
RCV000081460.11

Allele description [Variation Report for NM_001110219.3(GJB6):c.689dup (p.Asn230fs)]

NM_001110219.3(GJB6):c.689dup (p.Asn230fs)

Gene:
GJB6:gap junction protein beta 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_001110219.3(GJB6):c.689dup (p.Asn230fs)
Other names:
p.Asn230LysfsX11
HGVS:
  • NC_000013.11:g.20222798dup
  • NG_008323.1:g.14604dup
  • NM_001110219.3:c.689dupMANE SELECT
  • NM_001110220.3:c.689dup
  • NM_001110221.3:c.689dup
  • NM_001370090.1:c.689dup
  • NM_001370091.1:c.689dup
  • NM_001370092.1:c.689dup
  • NM_006783.5:c.689dup
  • NP_001103689.1:p.Asn230fs
  • NP_001103690.1:p.Asn230fs
  • NP_001103691.1:p.Asn230fs
  • NP_001357019.1:p.Asn230fs
  • NP_001357020.1:p.Asn230fs
  • NP_001357021.1:p.Asn230fs
  • NP_006774.2:p.Asn230fs
  • LRG_1395t1:c.689dup
  • LRG_1395:g.14604dup
  • LRG_1395p1:p.Asn230fs
  • NC_000013.10:g.20796937dup
  • NM_001110219.2:c.689dupA
  • NM_006783.4:c.689dup
  • NM_006783.4:c.689dupA
  • p.Asn230fs
Protein change:
N230fs
Links:
dbSNP: rs398124237
NCBI 1000 Genomes Browser:
rs398124237
Molecular consequence:
  • NM_001110219.3:c.689dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001110220.3:c.689dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001110221.3:c.689dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370090.1:c.689dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370091.1:c.689dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370092.1:c.689dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006783.5:c.689dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000113391Eurofins Ntd Llc (ga)
no assertion criteria provided
Pathogenic
(May 20, 2013) 		germlineclinical testing

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

SCV001813310GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Feb 4, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot provided796not providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]
PMID:
23757202

Details of each submission

From Eurofins Ntd Llc (ga), SCV000113391.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided0not providednot providedclinical testing
(GTR000502361)		 PubMed (1)
2not provided0not providednot providedclinical testing
(GTR000503304)		 PubMed (1)
3not provided0not providednot providedclinical testing PubMed (1)
4not provided2not providednot providedclinical testing PubMed (1)

Description

Frameshift mutation is of a type predicted to cause disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown147not providednot provided
(GTR000502361)		0not providednot providednot provided
2germlineunknown423not providednot provided
(GTR000503304)		0not providednot providednot provided
3germlineunknown1not providednot provided0not providednot providednot provided
4germlineunknown225not providednot provided2not providednot providednot provided

From GeneDx, SCV001813310.3

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

Description

Observed with no other GJB6 variant in a patient with presumed autosomal recessive hearing loss, and in a patient with hearing loss attributed to neonatal meningitis in published literature (Beck et al., 2015); Frameshift variant predicted to result in protein truncation as the last 32 amino acids are lost and replaced with 10 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 25621899, 34426522, 25214170)

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

Last Updated: Jan 13, 2025