NM_000080.4(CHRNE):c.*744_*745insA AND Congenital Myasthenic Syndrome, Dominant/Recessive

NM_000080.4(CHRNE):c.744_745insA AND Congenital Myasthenic Syndrome, Dominant/Recessive

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000323876.5

Allele description [Variation Report for NM_000080.4(CHRNE):c.744_745insA]

NM_000080.4(CHRNE):c.744_745insA

Genes:

CHRNE:cholinergic receptor nicotinic epsilon subunit [Gene - OMIM - HGNC]
MINK1:misshapen like kinase 1 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

17p13.2

Genomic location:

Preferred name:

NM_000080.4(CHRNE):c.*744_*745insA

HGVS:

NC_000017.11:g.4897991_4897992insT
NG_008029.2:g.10084_10085insA
NG_028005.1:g.69652_69653insT
NM_000080.4:c.*744_*745insAMANE SELECT
NM_001024937.4:c.*704_*705insT
NM_001321236.2:c.*704_*705insT
NM_015716.5:c.*704_*705insT
NM_153827.5:c.*704_*705insTMANE SELECT
NM_170663.5:c.*704_*705insT
LRG_1254t1:c.*744_*745insA
LRG_1254:g.10084_10085insA
NC_000017.10:g.4801286_4801287insT
NM_000080.3:c.*744_*745insA

Links:

dbSNP: rs886053116

NCBI 1000 Genomes Browser:

rs886053116

Molecular consequence:

NM_000080.4:c.*744_*745insA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001024937.4:c.*704_*705insT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001321236.2:c.*704_*705insT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_015716.5:c.*704_*705insT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_153827.5:c.*704_*705insT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_170663.5:c.*704_*705insT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Congenital Myasthenic Syndrome, Dominant/Recessive
Identifiers:: MedGen: CN239246

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000403837	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000403837

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000403837.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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