NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 24, 2024
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:: RCV004587265.1

Allele description [Variation Report for NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg)]

NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg)

Gene:

MUSK:muscle associated receptor tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.3

Genomic location:

Preferred name:

NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg)

HGVS:

NC_000009.12:g.110785684G>A
NG_016016.2:g.121894G>A
NM_001166280.2:c.1486G>A
NM_001166281.2:c.1456G>A
NM_001369398.1:c.484G>A
NM_005592.3:c.1744G>A
NM_005592.4:c.1744G>AMANE SELECT
NP_001159752.1:p.Gly496Arg
NP_001159753.1:p.Gly486Arg
NP_001356327.1:p.Gly162Arg
NP_005583.1:p.Gly582Arg
NC_000009.11:g.113547964G>A
NM_005592.4:c.1744G>A

Protein change:

G162R

Links:

dbSNP: rs202126269

NCBI 1000 Genomes Browser:

rs202126269

Molecular consequence:

NM_001166280.2:c.1486G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001166281.2:c.1456G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369398.1:c.484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005592.4:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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CNE_RS35790 [Cupriavidus necator N-1]
CNE_RS35790 [Cupriavidus necator N-1]
Gene ID:34312798

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Chromosome neighbors for GEO Profiles (Select 87922317) (19)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005076561	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Apr 24, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005076561

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Apr 24, 2024)

germline

clinical testing

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

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

Citations

PubMed

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.

Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M, Laccone F, Iglseder S, Marte S, Baumgartner M, Eisenkölbl A, Liechtenstein C, Rudnik S, Quasthoff S, Grinzinger S, Spenger J, Wortmann SB, Löscher WN, Zimprich F, Kellersmann A, Rappold M, Bernert G, et al.

J Neurol. 2023 Feb;270(2):909-916. doi: 10.1007/s00415-022-11440-0. Epub 2022 Oct 29.

PubMed [citation]

PMID:: 36308527
PMCID:: PMC9886627

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005076561.1

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

Description

Variant summary: MUSK c.1744G>A (p.Gly582Arg) results in a non-conservative amino acid change located in the Protein kinase domain (IPR000719) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 247162 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1744G>A has been reported in the literature in an individual affected with a Congenital myasthenic syndrome (Krenn_2023). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 36308527). ClinVar contains an entry for this variant (Variation ID: 1448049). Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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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