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NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
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:
RCV001004400.9

Allele description [Variation Report for NM_004004.6(GJB2):c.35del (p.Gly12fs)]

NM_004004.6(GJB2):c.35del (p.Gly12fs)

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.35del (p.Gly12fs)
Other names:
NM_004004.5(GJB2):c.35delG(p.Gly12Valfs); NM_004004.5(GJB2):c.35delG
HGVS:
  • NC_000013.11:g.20189552del
  • NG_008358.1:g.8429del
  • NM_004004.6:c.35delMANE SELECT
  • NP_003995.2:p.Gly12fs
  • LRG_1350t1:c.35del
  • LRG_1350:g.8429del
  • LRG_1350p1:p.Gly12fs
  • NC_000013.10:g.20763686del
  • NC_000013.10:g.20763686delC
  • NC_000013.10:g.20763686delC
  • NC_000013.10:g.20763691del
  • NC_000013.10:g.20763691del
  • NC_000013.10:g.20763691delC
  • NC_000013.11:g.20189547delC
  • NM_004004.5:c.35delG
  • NM_004004.6:c.35delGMANE SELECT
  • c.35delG
  • c.35delG (p.Gly12Valfs*2)
  • p.(Gly12Valfs*2)
  • p.Gly12Valfs*2
  • p.Gly12ValfsX2
  • p.Gly12fs
Protein change:
G12fs
Links:
OMIM: 121011.0005; dbSNP: rs80338939
NCBI 1000 Genomes Browser:
rs80338939

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 recessive nonsyndromic hearing loss 1B
Synonyms:
Deafness, autosomal recessive 1b
Identifiers:
MONDO: MONDO:0012977; MedGen: C2675235; Orphanet: 90636; OMIM: 612645

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001163372Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Baylor Genetics, SCV001163372.1

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

Last Updated: Oct 26, 2024