NM_000079.4(CHRNA1):c.779-12_779-11del AND Congenital Myasthenic Syndrome, Dominant/Recessive

This record was updated by the submitter. Please see the current version.

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:: RCV000342138.3

Allele description

NM_000079.4(CHRNA1):c.779-12_779-11del

Gene:

CHRNA1:cholinergic receptor nicotinic alpha 1 subunit [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q31.1

Genomic location:

Preferred name:

NM_000079.4(CHRNA1):c.779-12_779-11del

HGVS:

NC_000002.12:g.174750180_174750181del
NG_008172.1:g.19292_19293del
NM_000079.4:c.779-12_779-11delMANE SELECT
NM_001039523.3:c.854-12_854-11del
NC_000002.11:g.175614908_175614909del
NM_000079.3:c.779-12_779-11delTG

Links:

dbSNP: rs1491478953

NCBI 1000 Genomes Browser:

rs1491478953

Molecular consequence:

NM_000079.4:c.779-12_779-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001039523.3:c.854-12_854-11del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000419472	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

SCV000419472

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, SCV000419472.2

#	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: Feb 7, 2023

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