NM_004004.6(GJB2):c.488T>C (p.Met163Thr) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 12, 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:: RCV001829485.3

Allele description [Variation Report for NM_004004.6(GJB2):c.488T>C (p.Met163Thr)]

NM_004004.6(GJB2):c.488T>C (p.Met163Thr)

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.488T>C (p.Met163Thr)

HGVS:

NC_000013.11:g.20189094A>G
NG_008358.1:g.8882T>C
NM_004004.6:c.488T>CMANE SELECT
NP_003995.2:p.Met163Thr
LRG_1350t1:c.488T>C
LRG_1350:g.8882T>C
LRG_1350p1:p.Met163Thr
NC_000013.10:g.20763233A>G
NM_004004.5:c.488T>C
NM_004004.6(GJB2):c.488T>CMANE SELECT
p.Met163Thr

Protein change:

M163T

Links:

dbSNP: rs1273330603

NCBI 1000 Genomes Browser:

rs1273330603

Molecular consequence:

NM_004004.6:c.488T>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

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
SCV002086042	Natera, Inc.	no assertion criteria provided	Uncertain significance (Feb 12, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002086042

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Feb 12, 2021)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002086042.1

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

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine