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NM_004004.6(GJB2):c.308A>G (p.Lys103Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 22, 2020
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:
RCV001766880.2

Allele description [Variation Report for NM_004004.6(GJB2):c.308A>G (p.Lys103Arg)]

NM_004004.6(GJB2):c.308A>G (p.Lys103Arg)

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.308A>G (p.Lys103Arg)
HGVS:
  • NC_000013.11:g.20189274T>C
  • NG_008358.1:g.8702A>G
  • NM_004004.6:c.308A>GMANE SELECT
  • NP_003995.2:p.Lys103Arg
  • LRG_1350t1:c.308A>G
  • LRG_1350:g.8702A>G
  • LRG_1350p1:p.Lys103Arg
  • NC_000013.10:g.20763413T>C
  • NM_004004.5:c.308A>G
Protein change:
K103R
Links:
dbSNP: rs915521910
NCBI 1000 Genomes Browser:
rs915521910
Molecular consequence:
  • NM_004004.6:c.308A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001989827GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jan 22, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV001989827.2

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

Description

Observed in the heterozygous state in a patient with hearing loss in published literature (Huang et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29605365)

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

Last Updated: Dec 24, 2023