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NM_005593.3(MYF5):c.23_32del (p.Gln8fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000659262.1

Allele description [Variation Report for NM_005593.3(MYF5):c.23_32del (p.Gln8fs)]

NM_005593.3(MYF5):c.23_32del (p.Gln8fs)

Gene:
MYF5:myogenic factor 5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q21.31
Genomic location:
Preferred name:
NM_005593.3(MYF5):c.23_32del (p.Gln8fs)
HGVS:
  • NC_000012.12:g.80717086_80717095del
  • NM_005593.3:c.23_32delMANE SELECT
  • NP_005584.2:p.Gln8fs
  • NC_000012.11:g.81110865_81110874del
  • NC_000012.11:g.81110865_81110874delAGTTCTCACC
  • NM_005593.2:c.23_32delAGTTCTCACC
Protein change:
Q8fs
Links:
OMIM: 159990.0002; dbSNP: rs1555216163
NCBI 1000 Genomes Browser:
rs1555216163
Molecular consequence:
  • NM_005593.3:c.23_32del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Scoliosis
Identifiers:
MONDO: MONDO:0005392; MedGen: C0036439; Human Phenotype Ontology: HP:0002650
Name:
Abnormal rib morphology
Synonyms:
Abnormality of the ribs
Identifiers:
MedGen: C1842083; Human Phenotype Ontology: HP:0000772
Name:
External ophthalmoplegia (CPEO)
Identifiers:
MedGen: C0162292; Human Phenotype Ontology: HP:0000544

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747041Engle Laboratory, Boston Children's Hospital
no assertion criteria provided
Pathogenicinheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Middle Easterninheritedyes32not providednot providednot providedresearch

Details of each submission

From Engle Laboratory, Boston Children's Hospital, SCV000747041.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Middle Eastern3not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided3not provided2not provided

Last Updated: Apr 23, 2022