NM_005592.3(MUSK):c.398T>C (p.Ile133Thr) AND multiple conditions

Clinical significance:Benign (Last evaluated: Dec 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000538271.2

Allele description [Variation Report for NM_005592.3(MUSK):c.398T>C (p.Ile133Thr)]

NM_005592.3(MUSK):c.398T>C (p.Ile133Thr)

Gene:
MUSK:muscle associated receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.3
Genomic location:
Preferred name:
NM_005592.3(MUSK):c.398T>C (p.Ile133Thr)
HGVS:
  • NC_000009.12:g.110695442T>C
  • NG_016016.1:g.31672T>C
  • NM_005592.3:c.398T>C
  • NP_005583.1:p.Ile133Thr
  • NC_000009.11:g.113457722T>C
Protein change:
I133T
Links:
dbSNP: rs55980069
NCBI 1000 Genomes Browser:
rs55980069
Molecular consequence:
  • NM_005592.3:c.398T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pena-Shokeir syndrome type I (FADS1)
Synonyms:
FETAL AKINESIA DEFORMATION SEQUENCE 1
Identifiers:
MedGen: C1276035; Orphanet: 994; OMIM: 208150
Name:
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9)
Identifiers:
MedGen: C4225368; Orphanet: 590; OMIM: 616325

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000656591Invitaecriteria provided, single submitter
Benign
(Dec 27, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000656591.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2019

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