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NM_004004.6(GJB2):c.409A>C (p.Thr137Pro) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 1, 2021
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:
RCV001822874.2

Allele description [Variation Report for NM_004004.6(GJB2):c.409A>C (p.Thr137Pro)]

NM_004004.6(GJB2):c.409A>C (p.Thr137Pro)

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.409A>C (p.Thr137Pro)
HGVS:
  • NC_000013.11:g.20189173T>G
  • NG_008358.1:g.8803A>C
  • NM_004004.6:c.409A>CMANE SELECT
  • NP_003995.2:p.Thr137Pro
  • LRG_1350t1:c.409A>C
  • LRG_1350:g.8803A>C
  • LRG_1350p1:p.Thr137Pro
  • NC_000013.10:g.20763312T>G
Protein change:
T137P
Links:
dbSNP: rs2137307658
NCBI 1000 Genomes Browser:
rs2137307658
Molecular consequence:
  • NM_004004.6:c.409A>C - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001762421WangQJ Lab, Chinese People's Liberation Army General Hospital
no assertion criteria provided
Likely pathogenic
(Jul 1, 2021)
maternalclinical testing

Summary from all submissions

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

Details of each submission

From WangQJ Lab, Chinese People's Liberation Army General Hospital, SCV001762421.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 30, 2023