NM_004004.6(GJB2):c.247_249del (p.Phe83del) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 27, 2018
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:: RCV001775052.2

Allele description [Variation Report for NM_004004.6(GJB2):c.247_249del (p.Phe83del)]

NM_004004.6(GJB2):c.247_249del (p.Phe83del)

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.247_249del (p.Phe83del)

HGVS:

NC_000013.11:g.20189335_20189337del
NG_008358.1:g.8641_8643del
NM_004004.6:c.247_249delMANE SELECT
NP_003995.2:p.Phe83del
LRG_1350t1:c.247_249del
LRG_1350:g.8641_8643del
LRG_1350p1:p.Phe83del
NC_000013.10:g.20763474_20763476del
NM_004004.6:c.247_249delTTCMANE SELECT

Protein change:

F83del

Links:

dbSNP: rs2137308192

NCBI 1000 Genomes Browser:

rs2137308192

Molecular consequence:

NM_004004.6:c.247_249del - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

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

Recent activity

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DNA dC->dU-editing enzyme APOBEC-3B isoform a [Homo sapiens]
DNA dC->dU-editing enzyme APOBEC-3B isoform a [Homo sapiens]
gi|1519312407|ref|NP_004891.5|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002011828	GeneID Lab - Advanced Molecular Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 27, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 22484064, 18809215, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002011828

GeneID Lab - Advanced Molecular Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 27, 2018)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	no	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness.

Petersen MB, Grigoriadou M, Koutroumpe M, Kokotas H.

Int J Pediatr Otorhinolaryngol. 2012 Jul;76(7):969-71. doi: 10.1016/j.ijporl.2012.03.007. Epub 2012 Apr 6.

PubMed [citation]

PMID:: 22484064

Sudden hearing loss in a family with GJB2 related progressive deafness.

Kokotas H, Theodosiou M, Korres G, Grigoriadou M, Ferekidou E, Giannoulia-Karantana A, Petersen MB, Korres S.

Int J Pediatr Otorhinolaryngol. 2008 Nov;72(11):1735-40. doi: 10.1016/j.ijporl.2008.08.006. Epub 2008 Sep 21.

PubMed [citation]

PMID:: 18809215

See all PubMed Citations (3)

Details of each submission

From GeneID Lab - Advanced Molecular Diagnostics, SCV002011828.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	not provided	clinical testing	PubMed (3)

Description

The GJB2 in frame-deletion has been described in a family with pre-lingual sensorineural deafness. The c.247_249delTTC (p.F83del) GJB2 mutation was detected in compound heterozygosity with the c.35delG GJB2 mutation in the proband and was later confirmed in the father, while the mother was homozygous for the c.35delG GJB2 mutation (PMID: 22484064, 18809215). Based on these findings and the limited literature regarding this substitution we consider it as a “likely pathogenic variant”.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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