NM_004004.6(GJB2):c.31_68del (p.Gly11fs) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Jul 24, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000409896.3

Allele description [Variation Report for NM_004004.6(GJB2):c.31_68del (p.Gly11fs)]

NM_004004.6(GJB2):c.31_68del (p.Gly11fs)

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.31_68del (p.Gly11fs)

HGVS:

NC_000013.11:g.20189514_20189551del
NG_008358.1:g.8425_8462del
NM_004004.6:c.31_68delMANE SELECT
NP_003995.2:p.Gly11fs
LRG_1350t1:c.31_68del
LRG_1350:g.8425_8462del
LRG_1350p1:p.Gly11fs
NC_000013.10:g.20763653_20763690del
NM_004004.5:c.31_68del38
c.31_68del
p.Gly11fs

Protein change:

G11fs

Links:

dbSNP: rs397516873

NCBI 1000 Genomes Browser:

rs397516873

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487541	Counsyl	no assertion criteria provided	Likely pathogenic (Mar 14, 2016)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16380907, 21465647
SCV002086067	Natera, Inc.	no assertion criteria provided	Pathogenic (Jul 24, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000487541

Counsyl

no assertion criteria provided

Likely pathogenic
(Mar 14, 2016)

unknown

clinical testing

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

SCV002086067

Natera, Inc.

no assertion criteria provided

Pathogenic
(Jul 24, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, et al.

Am J Hum Genet. 2005 Dec;77(6):945-57. Epub 2005 Oct 19.

PubMed [citation]

PMID:: 16380907
PMCID:: PMC1285178

Vestibular dysfunction in DFNB1 deafness.

Dodson KM, Blanton SH, Welch KO, Norris VW, Nuzzo RL, Wegelin JA, Marin RS, Nance WE, Pandya A, Arnos KS.

Am J Med Genet A. 2011 May;155A(5):993-1000. doi: 10.1002/ajmg.a.33828. Epub 2011 Apr 4.

PubMed [citation]

PMID:: 21465647
PMCID:: PMC3080433

Details of each submission

From Counsyl, SCV000487541.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV002086067.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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