NM_000165.5(GJA1):c.*3dup AND not provided

Germline classification:: Benign (2 submissions)
Last evaluated:: Oct 20, 2019
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:: RCV001529262.3

Allele description [Variation Report for NM_000165.5(GJA1):c.*3dup]

NM_000165.5(GJA1):c.*3dup

Gene:

GJA1:gap junction protein alpha 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6q22.31

Genomic location:

Preferred name:

NM_000165.5(GJA1):c.*3dup

HGVS:

NC_000006.12:g.121447999dup
NG_008308.1:g.17401dup
NM_000165.5:c.*3dupMANE SELECT
LRG_1289t1:c.*3dup
LRG_1289:g.17401dup
NC_000006.11:g.121769144_121769145insA
NC_000006.11:g.121769145dup
NM_000165.3:c.*3dupA

Links:

dbSNP: rs397824185

NCBI 1000 Genomes Browser:

rs397824185

Molecular consequence:

NM_000165.5:c.*3dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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
SCV001742412	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001897645	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Oct 20, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001742412

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus

no assertion criteria provided

Likely benign

germline

clinical testing

SCV001897645

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Oct 20, 2019)

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 Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001742412.3

#	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

From GeneDx, SCV001897645.1

#	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: Mar 10, 2024

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