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NM_005592.4(MUSK):c.1185-24T>A AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 20, 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:
RCV004725650.1

Allele description [Variation Report for NM_005592.4(MUSK):c.1185-24T>A]

NM_005592.4(MUSK):c.1185-24T>A

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.1185-24T>A
HGVS:
  • NC_000009.12:g.110775764T>A
  • NG_016016.2:g.111974T>A
  • NM_001166280.2:c.951-24T>A
  • NM_001166281.2:c.921-24T>A
  • NM_001369398.1:c.-52-24T>A
  • NM_005592.4:c.1185-24T>AMANE SELECT
  • NC_000009.11:g.113538044T>A
Molecular consequence:
  • NM_001166280.2:c.951-24T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001166281.2:c.921-24T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369398.1:c.-52-24T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005592.4:c.1185-24T>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Fetal akinesia deformation sequence 1 (FADS1)
Synonyms:
Pena Shokeir syndrome, type 1; Lethal Pena-Shokeir 1 syndrome; Pena-Shokeir syndrome type I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100101; MedGen: C1276035; Orphanet: 994; OMIM: 208150; Human Phenotype Ontology: HP:0001989
Name:
Congenital myasthenic syndrome 9
Synonyms:
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
Identifiers:
MONDO: MONDO:0014587; MedGen: C4225368; Orphanet: 590; OMIM: 616325

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0053290333billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Sep 20, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From 3billion, SCV005329033.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024