NM_001110219.3(GJB6):c.-16+261_-16+264del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 17, 2021
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:: RCV001540780.2

Allele description [Variation Report for NM_001110219.3(GJB6):c.-16+261_-16+264del]

NM_001110219.3(GJB6):c.-16+261_-16+264del

Gene:

GJB6:gap junction protein beta 6 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_001110219.3(GJB6):c.-16+261_-16+264del

HGVS:

NC_000013.11:g.20229343_20229346del
NG_008323.1:g.8077_8080del
NM_001110219.3:c.-16+261_-16+264delMANE SELECT
NM_001110220.3:c.-16+261_-16+264del
NM_001110221.3:c.-16+261_-16+264del
NM_001370090.1:c.-16+261_-16+264del
NM_001370091.1:c.-16+261_-16+264del
NM_001370092.1:c.-16+261_-16+264del
NM_006783.5:c.-16+261_-16+264del
LRG_1395t1:c.-16+261_-16+264del
LRG_1395:g.8077_8080del
NC_000013.10:g.20803482_20803485del

Links:

dbSNP: rs60451416

NCBI 1000 Genomes Browser:

rs60451416

Molecular consequence:

NM_001110219.3:c.-16+261_-16+264del - intron variant - [Sequence Ontology: SO:0001627]
NM_001110220.3:c.-16+261_-16+264del - intron variant - [Sequence Ontology: SO:0001627]
NM_001110221.3:c.-16+261_-16+264del - intron variant - [Sequence Ontology: SO:0001627]
NM_001370090.1:c.-16+261_-16+264del - intron variant - [Sequence Ontology: SO:0001627]
NM_001370091.1:c.-16+261_-16+264del - intron variant - [Sequence Ontology: SO:0001627]
NM_001370092.1:c.-16+261_-16+264del - intron variant - [Sequence Ontology: SO:0001627]
NM_006783.5:c.-16+261_-16+264del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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nuclear egress lamina protein [Human betaherpesvirus 5]
nuclear egress lamina protein [Human betaherpesvirus 5]
gi|52139238|ref|YP_081512.1|

Protein
Gene Links for GEO Profiles (Select 105322993) (1)
Gene
KRT5 keratin 5 [Homo sapiens]
KRT5 keratin 5 [Homo sapiens]
Gene ID:3852

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001758702	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jun 17, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001758702

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jun 17, 2021)

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, SCV001758702.1

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

Last Updated: Dec 24, 2023

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