NM_004004.6(GJB2):c.445_486del (p.Ala149_Ser162del) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 1, 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:: RCV000672467.1

Allele description [Variation Report for NM_004004.6(GJB2):c.445_486del (p.Ala149_Ser162del)]

NM_004004.6(GJB2):c.445_486del (p.Ala149_Ser162del)

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.445_486del (p.Ala149_Ser162del)

HGVS:

NC_000013.11:g.20189098_20189139del
NG_008358.1:g.8839_8880del
NM_004004.6:c.445_486delMANE SELECT
NP_003995.2:p.Ala149_Ser162del
LRG_1350t1:c.445_486del
LRG_1350:g.8839_8880del
LRG_1350p1:p.Ala149_Ser162del
NC_000013.10:g.20763237_20763278del
NM_004004.5:c.445_486del42

Links:

dbSNP: rs1555341874

NCBI 1000 Genomes Browser:

rs1555341874

Molecular consequence:

NM_004004.6:c.445_486del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000797573	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Feb 1, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000797573

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Feb 1, 2018)

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, SCV000797573.1

#	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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