NM_001927.4(DES):c.1255_1271del (p.Pro419fs) AND Myofibrillar myopathy 1

Clinical significance:Pathogenic (Last evaluated: Jan 31, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000625960.1

Allele description [Variation Report for NM_001927.4(DES):c.1255_1271del (p.Pro419fs)]

NM_001927.4(DES):c.1255_1271del (p.Pro419fs)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.1255_1271del (p.Pro419fs)
HGVS:
  • NC_000002.12:g.219423787_219423803del
  • NG_008043.1:g.10411_10427del
  • NM_001927.4:c.1255_1271delMANE SELECT
  • NP_001918.3:p.Pro419fs
  • LRG_380t1:c.1255_1271del
  • LRG_380t1:c.1255_1271del17
  • LRG_380:g.10411_10427del
  • NC_000002.11:g.220288509_220288525del
  • NM_001927.3:c.1255_1271del17
  • p.P419fs
Protein change:
P419fs
Links:
dbSNP: rs1553603732
NCBI 1000 Genomes Browser:
rs1553603732
Molecular consequence:
  • NM_001927.4:c.1255_1271del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Myofibrillar myopathy 1 (MFM1)
Synonyms:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED; Desminopathy; Desmin related myopathy (former name); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011076; MedGen: C1832370; Orphanet: 98909; OMIM: 601419

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000746558Undiagnosed Diseases Network,NIH - Undiagnosed Diseases Network (NIH), UDNcriteria provided, single submitter
Pathogenic
(Jan 31, 2017)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Arabinheritedyes31not providednot providedyesclinical 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 Undiagnosed Diseases Network,NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000746558.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab3not providedyesclinical testing
(GTR000553916.1)
PubMed (1)

Description

This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID: 18414213) and was found homozygous in an 18-year-old male with congenital hypotonia, motor delay, progressive muscle weakness, bilateral ptosis, ophthalmoparesis, tachycardia, myopathy on EMG, mild left median neuropathy on NCV, and ragged red fibers. In this consanguineous family, the variant segregated with disease in two affected siblings and 5 affected cousins.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided
(GTR000553916.1)
3not provided1not provided

Last Updated: Oct 7, 2021

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