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NM_000070.3(CAPN3):c.550del (p.Thr184fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000626577.4

Allele description [Variation Report for NM_000070.3(CAPN3):c.550del (p.Thr184fs)]

NM_000070.3(CAPN3):c.550del (p.Thr184fs)

Gene:
CAPN3:calpain 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q15.1
Genomic location:
Preferred name:
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
Other names:
NM_000070.2:c.550del;p.Thr184Argfs*36
HGVS:
  • NC_000015.10:g.42387804del
  • NG_008660.1:g.44702del
  • NM_000070.3:c.550delMANE SELECT
  • NM_000070.3:c.550delA
  • NM_024344.2:c.550del
  • NM_173087.2:c.550del
  • NP_000061.1:p.Thr184fs
  • NP_077320.1:p.Thr184fs
  • NP_077320.1:p.Thr184fs
  • NP_775110.1:p.Thr184fs
  • LRG_849t1:c.550del
  • LRG_849:g.44702del
  • LRG_849p1:p.Thr184fs
  • NC_000015.9:g.42680001del
  • NC_000015.9:g.42680002del
  • NM_000070.2:c.550delA
  • NM_000070.3:c.549delAMANE SELECT
  • NM_000070.3:c.550del
  • NM_000070.3:c.550delAMANE SELECT
  • NM_024344.1:c.550del
  • p.Thr184Argfs*36
  • p.Thr184ArgfsTer36
Protein change:
T184fs
Links:
Genetic Testing Registry (GTR): GTR000330880; OMIM: 114240.0009; dbSNP: rs80338800
NCBI 1000 Genomes Browser:
rs80338800
Molecular consequence:
  • NM_000070.3:c.550del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_024344.2:c.550del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_173087.2:c.550del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Elevated circulating creatine kinase concentration
Synonyms:
HYPERCKEMIA, IDIOPATHIC; Elevated serum creatine phosphokinase; CAV3-Related Isolated HyperCKemia
Identifiers:
MONDO: MONDO:0007402; MedGen: C0241005; OMIM: 123320; Human Phenotype Ontology: HP:0003236
Name:
Migraine
Synonyms:
Migraine Disorders; Migraine disorder
Identifiers:
MONDO: MONDO:0005277; MedGen: C0149931; Human Phenotype Ontology: HP:0002076
Name:
Difficulty walking
Identifiers:
MedGen: C0311394
Name:
Positive Romberg sign
Identifiers:
MedGen: C0240914; Human Phenotype Ontology: HP:0002403
Name:
Paresthesia
Identifiers:
MedGen: C0030554; Human Phenotype Ontology: HP:0003401
Name:
EMG: neuropathic changes
Identifiers:
MedGen: C4021727; Human Phenotype Ontology: HP:0003445
Name:
Progressive spinal muscular atrophy
Identifiers:
MONDO: MONDO:0018687; MedGen: C4082951; Human Phenotype Ontology: HP:0009067
Name:
Absent muscle fiber calpain-3
Identifiers:
MedGen: C4022625; Human Phenotype Ontology: HP:0030120

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747278Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 1, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747278.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024