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NM_004004.6(GJB2):c.645del (p.Arg216fs) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV003313090.2

Allele description [Variation Report for NM_004004.6(GJB2):c.645del (p.Arg216fs)]

NM_004004.6(GJB2):c.645del (p.Arg216fs)

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.645del (p.Arg216fs)
HGVS:
  • NC_000013.11:g.20188938del
  • NG_008358.1:g.9039del
  • NM_004004.5:c.645del
  • NM_004004.6:c.645delMANE SELECT
  • NP_003995.2:p.Arg216fs
  • LRG_1350t1:c.645del
  • LRG_1350:g.9039del
  • LRG_1350p1:p.Arg216fs
  • NC_000013.10:g.20763076delA
  • NC_000013.10:g.20763077del
  • NM_004004.5:c.645delT
  • p.Arg216AspfsX18
Protein change:
R216fs
Links:
dbSNP: rs1555341794
NCBI 1000 Genomes Browser:
rs1555341794
Molecular consequence:
  • NM_004004.6:c.645del - frameshift variant - [Sequence Ontology: SO:0001589]

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:
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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004012823GenomeConnect - Brain Gene Registry
no classification provided
not providedpaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Brain Gene Registry, SCV004012823.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Likely pathogenic and reported on 07-18-2017 by Lab GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024