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NM_004004.6(GJB2):c.384C>T (p.Ile128=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 21, 2007
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:
RCV000037848.5

Allele description [Variation Report for NM_004004.6(GJB2):c.384C>T (p.Ile128=)]

NM_004004.6(GJB2):c.384C>T (p.Ile128=)

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.384C>T (p.Ile128=)
HGVS:
  • NC_000013.11:g.20189198G>A
  • NG_008358.1:g.8778C>T
  • NM_004004.6:c.384C>TMANE SELECT
  • NP_003995.2:p.Ile128=
  • LRG_1350t1:c.384C>T
  • LRG_1350:g.8778C>T
  • LRG_1350p1:p.Ile128=
  • NC_000013.10:g.20763337G>A
  • NM_004004.5:c.384C>T
  • c.384C>T
  • p.Ile128Ile
Links:
dbSNP: rs111033298
NCBI 1000 Genomes Browser:
rs111033298
Molecular consequence:
  • NM_004004.6:c.384C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000061510Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Feb 21, 2007) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Hoang Dinh E, Ahmad S, Chang Q, Tang W, Stong B, Lin X.

Brain Res. 2009 Jun 24;1277:52-69. doi: 10.1016/j.brainres.2009.02.008. Epub 2009 Feb 20. Review.

PubMed [citation]
PMID:
19230829
PMCID:
PMC2755050

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Milá M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P.

Hum Mol Genet. 1997 Sep;6(9):1605-9.

PubMed [citation]
PMID:
9285800
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061510.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2024