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NM_004004.6(GJB2):c.488T>C (p.Met163Thr) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 12, 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:
RCV001829485.3

Allele description [Variation Report for NM_004004.6(GJB2):c.488T>C (p.Met163Thr)]

NM_004004.6(GJB2):c.488T>C (p.Met163Thr)

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.488T>C (p.Met163Thr)
HGVS:
  • NC_000013.11:g.20189094A>G
  • NG_008358.1:g.8882T>C
  • NM_004004.6:c.488T>CMANE SELECT
  • NP_003995.2:p.Met163Thr
  • LRG_1350t1:c.488T>C
  • LRG_1350:g.8882T>C
  • LRG_1350p1:p.Met163Thr
  • NC_000013.10:g.20763233A>G
  • NM_004004.5:c.488T>C
  • NM_004004.6(GJB2):c.488T>CMANE SELECT
  • p.Met163Thr
Protein change:
M163T
Links:
dbSNP: rs1273330603
NCBI 1000 Genomes Browser:
rs1273330603
Molecular consequence:
  • NM_004004.6:c.488T>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
SCV002086042Natera, Inc.
no assertion criteria provided
Uncertain significance
(Feb 12, 2021)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002086042.1

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

Last Updated: Dec 24, 2023