NM_004004.6(GJB2):c.-22-12C>T AND not specified

Germline classification:: Benign (3 submissions)
Last evaluated:: Nov 27, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000037804.31

Allele description [Variation Report for NM_004004.6(GJB2):c.-22-12C>T]

NM_004004.6(GJB2):c.-22-12C>T

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.-22-12C>T

HGVS:

NC_000013.11:g.20189615G>A
NG_008358.1:g.8361C>T
NM_004004.6:c.-22-12C>TMANE SELECT
LRG_1350t1:c.-22-12C>T
LRG_1350:g.8361C>T
NC_000013.10:g.20763754G>A
NM_004004.5:c.-22-12C>T
c.-22-12C>T

Links:

dbSNP: rs9578260

NCBI 1000 Genomes Browser:

rs9578260

Molecular consequence:

NM_004004.6:c.-22-12C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: indole-3-acetaldehyde oxidase-like isoform X2 [Cucumis melo]
PREDICTED: indole-3-acetaldehyde oxidase-like isoform X2 [Cucumis melo]
gi|659097913|ref|XP_008449878.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061466	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Nov 27, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000309910	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000855369	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Jun 21, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061466

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Nov 27, 2017)

germline

clinical testing

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

SCV000309910

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

clinical testing

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

SCV000855369

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Jun 21, 2017)

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	not provided	35	35	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	20	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

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 Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061466.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	35	not provided	not provided	clinical testing	PubMed (1)

Description

c.-22-12C>T in Intron 1 of GJB2: This variant is not expected to have clinical s ignificance because it has been identified in 24% (5729/23952) of African chromo somes by the Genome Aggregation Database (gnomAD; http://gnomad.broadinstitute.o rg; dbSNP rs9578260). ACMG/AMP Criteria applied: BA1

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		35	not provided	35	not provided

From PreventionGenetics, part of Exact Sciences, SCV000309910.1

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

From Eurofins Ntd Llc (ga), SCV000855369.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	20	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		20	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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