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NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) AND Miyoshi muscular dystrophy 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 17, 2007
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:
RCV000007066.5

Allele description [Variation Report for NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)]

NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)
HGVS:
  • NC_000002.12:g.71551073G>A
  • NG_008694.1:g.102451G>A
  • NM_001130455.2:c.1558G>A
  • NM_001130976.2:c.1513G>A
  • NM_001130977.2:c.1513G>A
  • NM_001130978.2:c.1555G>A
  • NM_001130979.2:c.1648G>A
  • NM_001130980.2:c.1606G>A
  • NM_001130981.2:c.1606G>A
  • NM_001130982.2:c.1651G>A
  • NM_001130983.2:c.1558G>A
  • NM_001130984.2:c.1516G>A
  • NM_001130985.2:c.1609G>A
  • NM_001130986.2:c.1516G>A
  • NM_001130987.2:c.1609G>AMANE SELECT
  • NM_003494.4:c.1555G>A
  • NP_001123927.1:p.Gly520Arg
  • NP_001124448.1:p.Gly505Arg
  • NP_001124449.1:p.Gly505Arg
  • NP_001124450.1:p.Gly519Arg
  • NP_001124451.1:p.Gly550Arg
  • NP_001124452.1:p.Gly536Arg
  • NP_001124453.1:p.Gly536Arg
  • NP_001124454.1:p.Gly551Arg
  • NP_001124455.1:p.Gly520Arg
  • NP_001124456.1:p.Gly506Arg
  • NP_001124457.1:p.Gly537Arg
  • NP_001124458.1:p.Gly506Arg
  • NP_001124459.1:p.Gly537Arg
  • NP_003485.1:p.Gly519Arg
  • LRG_845t1:c.1555G>A
  • LRG_845t2:c.1609G>A
  • LRG_845:g.102451G>A
  • LRG_845p1:p.Gly519Arg
  • LRG_845p2:p.Gly537Arg
  • NC_000002.11:g.71778203G>A
  • NM_003494.3:c.1555G>A
  • O75923:p.Gly519Arg
Protein change:
G505R; GLY519ARG
Links:
UniProtKB: O75923#VAR_057850; OMIM: 603009.0015; dbSNP: rs121908962
NCBI 1000 Genomes Browser:
rs121908962
Molecular consequence:
  • NM_001130455.2:c.1558G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130976.2:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130977.2:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130978.2:c.1555G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130979.2:c.1648G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130980.2:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130981.2:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130982.2:c.1651G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130983.2:c.1558G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130984.2:c.1516G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130985.2:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130986.2:c.1516G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130987.2:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003494.4:c.1555G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Miyoshi muscular dystrophy 1 (MMD1)
Identifiers:
MONDO: MONDO:0024545; MedGen: C4551973; Orphanet: 45448; OMIM: 254130

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027262OMIM
no assertion criteria provided
Pathogenic
(Apr 17, 2007) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Symptomatic dysferlin gene mutation carriers: characterization of two cases.

Illa I, De Luna N, Domínguez-Perles R, Rojas-García R, Paradas C, Palmer J, Márquez C, Gallano P, Gallardo E.

Neurology. 2007 Apr 17;68(16):1284-9. Epub 2007 Feb 7.

PubMed [citation]
PMID:
17287450

Details of each submission

From OMIM, SCV000027262.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 sibs with Miyoshi myopathy (MMD1; 254130), Illa et al. (2007) identified a homozygous 1555G-A transition in exon 18 of the DYSF gene, resulting in a gly519-to-arg (G519R) substitution. Age at onset was 18 and 15 years, respectively, of distal weakness of the lower limbs with progression to proximal muscle involvement and later upper limb involvement. Both were wheelchair-bound in their thirties. The patients' father, who was heterozygous for the G519R mutation, developed calf myalgias and mild progressive difficulties in walking at age 65 years. He had moderately increased serum creatine kinase and decreased dysferlin immunostaining on muscle biopsy, although DYSF mRNA levels were normal. The findings indicated that heterozygous DYSF mutation carriers may develop late-onset milder manifestations of the disorder.

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

Last Updated: Jun 23, 2024