NM_004004.6(GJB2):c.409A>C (p.Thr137Pro) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 1, 2021
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001822874.2

Allele description [Variation Report for NM_004004.6(GJB2):c.409A>C (p.Thr137Pro)]

NM_004004.6(GJB2):c.409A>C (p.Thr137Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_004004.6(GJB2):c.409A>C (p.Thr137Pro)

HGVS:

NC_000013.11:g.20189173T>G
NG_008358.1:g.8803A>C
NM_004004.6:c.409A>CMANE SELECT
NP_003995.2:p.Thr137Pro
LRG_1350t1:c.409A>C
LRG_1350:g.8803A>C
LRG_1350p1:p.Thr137Pro
NC_000013.10:g.20763312T>G

Protein change:

T137P

Links:

dbSNP: rs2137307658

NCBI 1000 Genomes Browser:

rs2137307658

Molecular consequence:

NM_004004.6:c.409A>C - missense variant - [Sequence Ontology: SO:0001583]

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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sp110 nuclear body protein [Mus musculus]
sp110 nuclear body protein [Mus musculus]
gi|356582299|ref|NP_084470.1|

Protein
X-Linked Lymphoproliferative Disease - GeneReviews®
X-Linked Lymphoproliferative Disease - GeneReviews®

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001762421	WangQJ Lab, Chinese People's Liberation Army General Hospital	no assertion criteria provided	Likely pathogenic (Jul 1, 2021)	maternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001762421

WangQJ Lab, Chinese People's Liberation Army General Hospital

no assertion criteria provided

Likely pathogenic
(Jul 1, 2021)

maternal

clinical testing

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Summary from all submissions

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

Details of each submission

From WangQJ Lab, Chinese People's Liberation Army General Hospital, SCV001762421.2

#	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	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 30, 2023

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