NM_000070.3(CAPN3):c.1746-20C>G AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000626578.1

Allele description [Variation Report for NM_000070.3(CAPN3):c.1746-20C>G]

NM_000070.3(CAPN3):c.1746-20C>G

Gene:
CAPN3:calpain 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q15.1
Genomic location:
Preferred name:
NM_000070.3(CAPN3):c.1746-20C>G
HGVS:
  • NC_000015.10:g.42403721C>G
  • NG_008660.1:g.60619C>G
  • NM_000070.3:c.1746-20C>GMANE SELECT
  • NM_024344.1:c.1746-20C>G
  • NM_173087.1:c.1602-20C>G
  • NM_173088.1:c.210-20C>G
  • LRG_849t1:c.1746-20C>G
  • LRG_849:g.60619C>G
  • NC_000015.9:g.42695919C>G
  • NM_000070.2:c.1746-20C>G
Links:
dbSNP: rs201892814
NCBI 1000 Genomes Browser:
rs201892814
Molecular consequence:
  • NM_000070.3:c.1746-20C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024344.1:c.1746-20C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_173087.1:c.1602-20C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_173088.1:c.210-20C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Elevated serum creatine phosphokinase
Synonyms:
HYPERCKEMIA, IDIOPATHIC; Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007402; MedGen: C0241005; OMIM: 123320; Human Phenotype Ontology: HP:0003236
Name:
Migraine
Synonyms:
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1; Migraine Disorders; Intermittent migraine headaches; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008000; MedGen: C0149931; OMIM: 157300; Human Phenotype Ontology: HP:0002076
Name:
Difficulty walking
Synonyms:
Difficulty in walking
Identifiers:
MedGen: C0311394; Human Phenotype Ontology: HP:0002355
Name:
Positive Romberg sign
Identifiers:
MedGen: C0240914; Human Phenotype Ontology: HP:0002403
Name:
Paresthesia
Synonyms:
Paresthesias; Pins and needles feeling; Tingling
Identifiers:
MedGen: C0030554; Human Phenotype Ontology: HP:0003401
Name:
EMG: neuropathic changes
Synonyms:
EMG: neurogenic abnormalities; EMG: neurogenic changes; EMG: neurogenic findings
Identifiers:
MedGen: C4021727; Human Phenotype Ontology: HP:0003445
Name:
Progressive spinal muscular atrophy
Synonyms:
Progressive spinal muscle degeneration; Progressive spinal muscle wasting
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000747279Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Pathogenic
(Jan 1, 2017)
unknownclinical testing

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

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, SCV000747279.1

#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: Sep 26, 2021

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