NM_000747.3(CHRNB1):c.40_48del (p.Gly14_Pro16del) AND Congenital myasthenic syndrome 2A

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 18, 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:: RCV001901500.4

Allele description [Variation Report for NM_000747.3(CHRNB1):c.40_48del (p.Gly14_Pro16del)]

NM_000747.3(CHRNB1):c.40_48del (p.Gly14_Pro16del)

Genes:

LOC130060147:ATAC-STARR-seq lymphoblastoid silent region 8121 [Gene]
CHRNB1:cholinergic receptor nicotinic beta 1 subunit [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000747.3(CHRNB1):c.40_48del (p.Gly14_Pro16del)

HGVS:

NC_000017.11:g.7445167_7445175del
NG_008026.1:g.5081_5089del
NM_000747.3:c.40_48delMANE SELECT
NP_000738.2:p.Gly14_Pro16del
NC_000017.10:g.7348485_7348493del
NC_000017.10:g.7348486_7348494del

Links:

dbSNP: rs1250653617

NCBI 1000 Genomes Browser:

rs1250653617

Molecular consequence:

NM_000747.3:c.40_48del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Congenital myasthenic syndrome 2A
Synonyms:: Myasthenic syndrome, congenital, 2a, slow-channel
Identifiers:: MONDO: MONDO:0014581; MedGen: C4225374; Orphanet: 590; OMIM: 616313

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002175096	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 18, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002175096

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 18, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002175096.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with CHRNB1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.40_48del, results in the deletion of 3 amino acid(s) of the CHRNB1 protein (p.Gly14_Pro16del), but otherwise preserves the integrity of the reading frame.

#	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 29, 2024

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