NM_004004.6(GJB2):c.269dup (p.Val91fs) AND Nonsyndromic Deafness

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 23, 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:: RCV001270032.9

Allele description [Variation Report for NM_004004.6(GJB2):c.269dup (p.Val91fs)]

NM_004004.6(GJB2):c.269dup (p.Val91fs)

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.269dup (p.Val91fs)

Other names:

p.Val91SerfsX11

HGVS:

NC_000013.11:g.20189313dup
NG_008358.1:g.8663dup
NM_004004.6:c.269dupMANE SELECT
NP_003995.2:p.Val91fs
LRG_1350t1:c.269dup
LRG_1350:g.8663dup
LRG_1350p1:p.Val91fs
NC_000013.10:g.20763452dup
NM_004004.5:c.269dup
NM_004004.5:c.269dupT
NM_004004.6:c.269dupTMANE SELECT

Protein change:

V91fs

Links:

dbSNP: rs730880338

NCBI 1000 Genomes Browser:

rs730880338

Observations:

Condition(s)

Name:: Nonsyndromic Deafness
Synonyms:: Non-syndromic hearing loss; Nonsyndromic hearing loss
Identifiers:: MeSH: C580334; MedGen: C3711374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001448745	Knight Diagnostic Laboratories, Oregon Health and Sciences University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 23, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001448745

Knight Diagnostic Laboratories, Oregon Health and Sciences University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 23, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV001448745.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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