NM_004004.6(GJB2):c.645del (p.Arg216fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 30, 2017
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:: RCV000521635.1

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000617684	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Jun 30, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000617684

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Jun 30, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000617684.2

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

Description

The c.645delT variant in the GJB2 gene has been reported previously, using alternate nomenclature as c.644delT, along with the c.35delG variant in a pediatric patient with prelingual nonsyndromic sensorineural hearing loss, though it was unclear if the parents were tested to determine phase of the variants (Angeli et al., 2008; King et al., 2012). The c.645delT variant causes a frameshift starting with codon Arginine 216, changes this amino acid to an Aspartic acid residue, and creates a premature Stop codon at position 18 of the new reading frame, denoted p.Arg216AspfsX18. The c.645delT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.645delT as a likely pathogenic variant.

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

Last Updated: Jun 23, 2024

ClinVar

Relating variation to medicine