NM_004004.6(GJB2):c.488T>C (p.Met163Thr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 28, 2020
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:: RCV000523253.5

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000617685	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 28, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000617685

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 28, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000617685.3

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

Description

Identified in two individuals from a large cohort of patients with hearing loss in published literature (Putcha et al., 2007); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17666888, 25388846, 19081147, 30755392)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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