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NM_032608.7(MYO18B):c.4792C>T (p.Arg1598Ter) AND Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 25, 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:
RCV004526967.1

Allele description [Variation Report for NM_032608.7(MYO18B):c.4792C>T (p.Arg1598Ter)]

NM_032608.7(MYO18B):c.4792C>T (p.Arg1598Ter)

Genes:
MYO18B-AS1:MYO18B antisense RNA 1 [Gene - HGNC]
MYO18B:myosin XVIIIB [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_032608.7(MYO18B):c.4792C>T (p.Arg1598Ter)
HGVS:
  • NC_000022.11:g.25898430C>T
  • NG_046772.2:g.161244C>T
  • NM_001318245.2:c.4795C>T
  • NM_032608.7:c.4792C>TMANE SELECT
  • NP_001305174.1:p.Arg1599Ter
  • NP_115997.5:p.Arg1598Ter
  • NC_000022.10:g.26294397C>T
  • NG_046772.1:g.161287C>T
Protein change:
R1598*
Molecular consequence:
  • NM_001318245.2:c.4795C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_032608.7:c.4792C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Synonyms:
Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism; Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
Identifiers:
MONDO: MONDO:0014689; MedGen: C4225285; Orphanet: 447974; OMIM: 616549

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005039169Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Mar 25, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005039169.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: MYO18B c.4792C>T (p.Arg1598X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.6e-05 in 249032 control chromosomes. To our knowledge, no occurrence of c.4792C>T in individuals affected with Klippel-Feil Anomaly-Myopathy Dysmorphism Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2193537). Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: May 7, 2024