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NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 1, 2021
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:
RCV002504896.1

Allele description [Variation Report for NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)]

NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)

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.249C>G (p.Phe83Leu)
HGVS:
  • NC_000013.11:g.20189333G>C
  • NG_008358.1:g.8643C>G
  • NM_004004.6:c.249C>GMANE SELECT
  • NP_003995.2:p.Phe83Leu
  • LRG_1350t1:c.249C>G
  • LRG_1350:g.8643C>G
  • LRG_1350p1:p.Phe83Leu
  • NC_000013.10:g.20763472G>C
  • NM_004004.5:c.249C>G
  • P29033:p.Phe83Leu
  • c.249C>G
Protein change:
F83L
Links:
UniProtKB: P29033#VAR_002142; dbSNP: rs111033218
NCBI 1000 Genomes Browser:
rs111033218
Molecular consequence:
  • NM_004004.6:c.249C>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219]

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:
Mutilating keratoderma (VOWNKL)
Synonyms:
Deafness, congenital, with keratopachydermia and constrictions of fingers and toes; Keratoderma hereditarium mutilans
Identifiers:
MONDO: MONDO:0007422; MedGen: C0265964; Orphanet: 494; OMIM: 124500
Name:
Ichthyosis, hystrix-like, with hearing loss
Synonyms:
HID SYNDROME; Hystrix-like ichthyosis with deafness
Identifiers:
MONDO: MONDO:0011245; MedGen: C1865234; Orphanet: 477; OMIM: 602540
Name:
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Synonyms:
Keratitis-ichthyosis-deafness syndrome, autosomal dominant; KID syndrome, autosomal dominant; Senter syndrome
Identifiers:
MONDO: MONDO:0007850; MedGen: C0265336; Orphanet: 477; OMIM: 148210
Name:
Palmoplantar keratoderma-deafness syndrome
Synonyms:
Keratoderma palmoplantar deafness; Keratoderma palmoplantar, with deafness; Palmoplantar keratoderma and sensorineural deafness; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007852; MedGen: C1835672; Orphanet: 2202; OMIM: 148350
Name:
Knuckle pads, deafness AND leukonychia syndrome
Synonyms:
Knuckle pads, leuconychia and sensorineural deafness; Bart-Pumphrey syndrome
Identifiers:
MONDO: MONDO:0007866; MedGen: C0266004; Orphanet: 2698; OMIM: 149200
Name:
Autosomal dominant nonsyndromic hearing loss 3A
Synonyms:
Deafness, autosomal dominant 3a
Identifiers:
MONDO: MONDO:0011103; MedGen: C2675750; Orphanet: 90635; OMIM: 601544
Name:
X-linked mixed hearing loss with perilymphatic gusher
Synonyms:
Deafness, X-linked 2; Deafness conductive with stapes fixation; Deafness 3 conductive with stapes fixation; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010576; MedGen: C1844678; Orphanet: 383; OMIM: 304400

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002808036Fulgent Genetics, Fulgent Genetics
    criteria provided, single submitter

    (ACMG Guidelines, 2015)    		Likely benign
    (Nov 1, 2021)     		unknownclinical testing

    PubMed (1)
    [See all records that cite this PMID]

    Help

    Summary from all submissions

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

    Citations

    PubMed

    Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

    Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

    Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

    PubMed [citation]
    PMID:
    25741868
    PMCID:
    PMC4544753

    Details of each submission

    From Fulgent Genetics, Fulgent Genetics, SCV002808036.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Nov 3, 2024