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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

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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: Nov 24, 2024