NM_004004.6(GJB2):c.338_341dup (p.Glu114_Phe115insTer) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 19, 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:: RCV000670090.1

Allele description [Variation Report for NM_004004.6(GJB2):c.338_341dup (p.Glu114_Phe115insTer)]

NM_004004.6(GJB2):c.338_341dup (p.Glu114_Phe115insTer)

Gene:

GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_004004.6(GJB2):c.338_341dup (p.Glu114_Phe115insTer)

HGVS:

NC_000013.11:g.20189243_20189246dup
NG_008358.1:g.8732_8735dup
NM_004004.6:c.338_341dupMANE SELECT
NP_003995.2:p.Glu114_Phe115insTer
LRG_1350t1:c.338_341dup
LRG_1350:g.8732_8735dup
LRG_1350p1:p.Glu114_Phe115insTer
NC_000013.10:g.20763382_20763385dup
NM_004004.5:c.338_341dupGTGA

Links:

dbSNP: rs1555341926

NCBI 1000 Genomes Browser:

rs1555341926

Molecular consequence:

NM_004004.6:c.338_341dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_004004.6:c.338_341dup - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000794906	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Oct 19, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000794906

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Oct 19, 2017)

unknown

clinical testing

Citation Link

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

Details of each submission

From Counsyl, SCV000794906.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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