NM_000070.3(CAPN3):c.550del (p.Thr184fs)Rat Genome Database
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Variant : CV32660 (NM_000070.3(CAPN3):c.550del (p.Thr184fs)) Homo sapiens

Symbol: CV32660
Name: NM_000070.3(CAPN3):c.550del (p.Thr184fs)
RGD ID: 8600656
Condition: Congenital muscular dystrophy [RCV000415373]|EMG: myopathic abnormalities [RCV000414969]|Elevated serum creatine phosphokinase [RCV000626577]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000348995]|Limb-girdle muscular dystrophy, type 2A [RCV000019188]|Muscular dystrophy [RCV000415344]|Muscular dystrophy [RCV000626574]|Muscular dystrophy [RCV000626575]|Muscular dystrophy, limb-girdle, autosomal dominant 4 [RCV001197255]|Myopathy [RCV000626576]|Shoulder girdle muscle weakness [RCV000415100]|not provided [RCV000078099]
Clinical Significance: pathogenic
Last Evaluated: 12/20/2019
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: CAPN3  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_000070.3:c.549delA
p.Thr184Argfs*36
NM_000070.2:c.550delA
NM_000070.3:c.550del
NC_000015.9:g.42680002del
NP_000061.1:p.Thr184fs
NP_077320.1:p.Thr184fs
NP_775110.1:p.Thr184fs
NM_024344.1:c.550del
NM_173087.1:c.550del
NG_008660.1:g.44702del
NC_000015.10:g.42387804del
p.Thr184ArgfsTer36
NM_000070.3:c.550delA
NM_000070.3:c.550delA
LRG_849t1:c.550del
LRG_849:g.44702del
LRG_849p1:p.Thr184fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381542,387,803 - 42,387,803CLINVAR
GRCh371542,680,001 - 42,680,001CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: Abnormal electrocardiogram; Abnormal heart rate; Absent Achilles reflex; Absent ankle reflexes; Absent muscle fiber calpain-3; Arrhythmia; Arrhythmias; Calf hypertrophy; Calf muscle hypertrophy; Calpainopathy; Cardiac arrhythmias; Cardiac rhythm disturbances; CAV3-Related Isolated HyperCKemia; Congenital MD; Contracture of elbow joint; Contractures of elbows; Contractures of the elbows; Contractures of the joints of the lower limbs; Contractures, lower limbs; Difficulty in walking; Difficulty walking; ECG abnormality; Ekg abnormalities; EKG abnormality; Elbow contracture; Elbow contractures; Elbow flexion contracture; Elbow flexion contractures; Elbow flexion deformity; Electrocardiographic changes; Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; EMG: myopathic changes; EMG: myopathy; EMG: neurogenic abnormalities; EMG: neurogenic changes; EMG: neurogenic findings; EMG: neuropathic changes; Fixed flexion at the elbow joint; Heart rhythm disorders; High serum creatine kinase; HYPERCKEMIA, IDIOPATHIC; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase; Increased size of calf muscles; Intermittent migraine headaches; Irregular heart beat; Irregular heartbeat; Leyden-Moebius muscular dystrophy; Limb girdle weakness; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy type 2; Migraine; Migraine Disorders; Migraine headache; Migraine headaches; MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1; MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES; Muscle weakness; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I; Muscular dystrophy, limb-girdle, type 2A, Amish; Muscular dystrophy, pelvofemoral; Muscular hypertrophy of the calf muscles; Muscular weakness; Muscular weakness, limb-girdle; Myopathic changes; Myopathic electromyogram; Paresthesia; Paresthesias; Pins and needles feeling; Positive Romberg sign; Progressive spinal muscle degeneration; Progressive spinal muscle wasting; Progressive spinal muscular atrophy; Shoulder girdle muscle weakness; Shoulder girdle weakness; Shoulder weakness; Tingling
Age Of Onset: adolescent|all ages|variable
Prevalence: 1-9 / 100 000




References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:7720071   PMID:9266733   PMID:10330340   PMID:10679950   PMID:14578192   PMID:14981715   PMID:15351423   PMID:15689361   PMID:15725583   PMID:16100770   PMID:16141003   PMID:16650086  
PMID:17318636   PMID:20635405   PMID:21204801   PMID:21984748   PMID:25741868   PMID:26467025   PMID:27142102   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000019188 CLINVAR
  RCV000078099 CLINVAR
  RCV000348995 CLINVAR
  RCV000414969 CLINVAR
  RCV000415100 CLINVAR
  RCV000415344 CLINVAR
  RCV000415373 CLINVAR
  RCV000626574 CLINVAR
  RCV000626575 CLINVAR
  RCV000626576 CLINVAR
  RCV000626577 CLINVAR
  RCV001197255 CLINVAR
dbSNP (RS) rs80338800 CLINVAR
MedGen C0026848 CLINVAR
  C0026850 CLINVAR
  C0241005 CLINVAR
  C0427063 CLINVAR
  C0699743 CLINVAR
  C1869123 CLINVAR
  C4021726 CLINVAR
  C4748295 CLINVAR
  CN239352 CLINVAR
  CN517202 CLINVAR
NCBI Gene CAPN3 CLINVAR
OMIM 114240 CLINVAR
  123320 CLINVAR
  157300 CLINVAR
  253600 CLINVAR
  618129 CLINVAR
OMIM Allele 114240.0009 CLINVAR
SNOMED CT 240059009 CLINVAR
  248650006 CLINVAR
  37796009 CLINVAR