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NM_004004.6(GJB2):c.487A>G (p.Met163Val) AND Hearing impairment

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Oct 18, 2023
Review status:
no classifications from unflagged records
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:
RCV001375209.5

Allele description [Variation Report for NM_004004.6(GJB2):c.487A>G (p.Met163Val)]

NM_004004.6(GJB2):c.487A>G (p.Met163Val)

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.487A>G (p.Met163Val)
HGVS:
  • NC_000013.11:g.20189095T>C
  • NG_008358.1:g.8881A>G
  • NM_004004.6:c.487A>GMANE SELECT
  • NP_003995.2:p.Met163Val
  • LRG_1350t1:c.487A>G
  • LRG_1350:g.8881A>G
  • LRG_1350p1:p.Met163Val
  • NC_000013.10:g.20763234T>C
  • NM_004004.5:c.487A>G
  • c.487A>G
Protein change:
M163V
Links:
dbSNP: rs80338949
NCBI 1000 Genomes Browser:
rs80338949
Molecular consequence:
  • NM_004004.6:c.487A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]

Condition(s)

Name:
Hearing impairment
Identifiers:
MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

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

Citations

PubMed

GJB2 gene mutations causing familial hereditary deafness in Turkey.

Bayazit YA, Cable BB, Cataloluk O, Kara C, Chamberlin P, Smith RJ, Kanlikama M, Ozer E, Cakmak EA, Mumbuc S, Arslan A.

Int J Pediatr Otorhinolaryngol. 2003 Dec;67(12):1331-5.

PubMed [citation]
PMID:
14643477

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]
PMID:
30311386
PMCID:
PMC6188673

Details of each submission

From Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center, SCV001571911.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

PS1_Strong, PM2_Moderate, PM5_Moderate, PP3_Supporting

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001571911Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(ClinGen HL ACMG Specifications v1)		Likely pathogenic
(Apr 12, 2021) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Last Updated: Oct 20, 2024