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NM_153212.3(GJB4):c.109G>A (p.Val37Met) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 18, 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:
RCV000490427.1

Allele description [Variation Report for NM_153212.3(GJB4):c.109G>A (p.Val37Met)]

NM_153212.3(GJB4):c.109G>A (p.Val37Met)

Gene:
GJB4:gap junction protein beta 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.3
Genomic location:
Preferred name:
NM_153212.3(GJB4):c.109G>A (p.Val37Met)
HGVS:
  • NC_000001.11:g.34761363G>A
  • NG_016243.1:g.6623G>A
  • NM_153212.3:c.109G>AMANE SELECT
  • NP_694944.1:p.Val37Met
  • LRG_1331t1:c.109G>A
  • LRG_1331:g.6623G>A
  • LRG_1331p1:p.Val37Met
  • NC_000001.10:g.35226964G>A
  • NM_153212.2:c.109G>A
Protein change:
V37M
Links:
dbSNP: rs146378222
NCBI 1000 Genomes Browser:
rs146378222
Molecular consequence:
  • NM_153212.3:c.109G>A - missense variant - [Sequence Ontology: SO:0001583]

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
Name:
Autosomal dominant nonsyndromic hearing loss 3A
Synonyms:
Deafness, autosomal dominant 3a
Identifiers:
MONDO: MONDO:0011103; MedGen: C2675750; Orphanet: 90635; OMIM: 601544

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267342Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 18, 2016) 		germlinereference population

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown1not providednot providednot providednot providedreference population

Citations

PubMed

Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.

Li TC, Wang WH, Li C, Yang JJ.

Mol Med Rep. 2015 Jan;11(1):619-24. doi: 10.3892/mmr.2014.2725. Epub 2014 Oct 21.

PubMed [citation]
PMID:
25333454

Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.

Yang JJ, Huang SH, Chou KH, Liao PJ, Su CC, Li SY.

Audiol Neurootol. 2007;12(3):198-208. Epub 2007 Jan 25. Erratum in: Audiol Neurootol. 2007;12(5):344.

PubMed [citation]
PMID:
17259707
See all PubMed Citations (3)

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267342.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 5, 2025