NM_021954.4(GJA3):c.-17-245_-17-235del AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 19, 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:: RCV002286106.2

Allele description [Variation Report for NM_021954.4(GJA3):c.-17-245_-17-235del]

NM_021954.4(GJA3):c.-17-245_-17-235del

Gene:

GJA3:gap junction protein alpha 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_021954.4(GJA3):c.-17-245_-17-235del

HGVS:

NC_000013.11:g.20143540_20143550del
NG_016399.1:g.22495_22505del
NM_021954.4:c.-17-245_-17-235delMANE SELECT
NC_000013.10:g.20717679_20717689del

Molecular consequence:

NM_021954.4:c.-17-245_-17-235del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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ribosomal protein S14 (plastid) [Mesembryanthemum cordifolium]
ribosomal protein S14 (plastid) [Mesembryanthemum cordifolium]
gi|1600729520|ref|YP_009570862.1|

Protein
NADH-plastoquinone oxidoreductase subunit 2 (plastid) [Mesembryanthemum cordifol...
NADH-plastoquinone oxidoreductase subunit 2 (plastid) [Mesembryanthemum cordifolium]
gi|1600729470|ref|YP_009570909.1|

Protein
Actaea vaginata ATP synthase CF1 alpha subunit (atpA) gene, complete cds; chloro...
Actaea vaginata ATP synthase CF1 alpha subunit (atpA) gene, complete cds; chloroplast
gi|1027589312|gb|KU662806.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002575965	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Oct 19, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002575965

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Oct 19, 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, SCV002575965.2

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

Description

See Variant Classification Assertion Criteria.

#	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 4, 2023

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