NM_005593.3(MYF5):c.23_32del (p.Gln8fs) AND Ophthalmoplegia, external, with rib and vertebral anomalies

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 26, 2018
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:: RCV000714295.2

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:: Ophthalmoplegia, external, with rib and vertebral anomalies
Identifiers:: MONDO: MONDO:0032565; MedGen: C4748418; OMIM: 618155

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000844984	OMIM	no assertion criteria provided	Pathogenic (Oct 26, 2018)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000844984

OMIM

no assertion criteria provided

Pathogenic
(Oct 26, 2018)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.

Di Gioia SA, Shaaban S, Tüysüz B, Elcioglu NH, Chan WM, Robson CD, Ecklund K, Gilette NM, Hamzaoglu A, Tayfun GA, Traboulsi EI, Engle EC.

Am J Hum Genet. 2018 Jul 5;103(1):115-124. doi: 10.1016/j.ajhg.2018.05.003. Epub 2018 Jun 7.

PubMed [citation]

PMID:: 29887215
PMCID:: PMC6035164

Details of each submission

From OMIM, SCV000844984.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 3 affected individuals from 2 Turkish families (ALO and CHO) with external ophthalmoplegia with rib and vertebral anomalies (EORVA; 618155), Di Gioia et al. (2018) identified homozygosity for a 10-bp deletion (c.23_32delAGTTCTCACC, NM_005593.2) in exon 1 of the MYF5 gene, causing a frameshift predicted to result in a premature termination codon (Gln8LeufsTer86). The mutation segregated with disease in both families and was not found in the 1000 Genomes Project, gnomAD, or ExAC databases.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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