NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jun 27, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000173976.3

Allele description [Variation Report for NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)]

NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)

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.1477C>T (p.Arg493Trp)
HGVS:
  • NC_000015.10:g.42401763C>T
  • NG_008660.1:g.58661C>T
  • NM_000070.3:c.1477C>TMANE SELECT
  • NM_024344.1:c.1477C>T
  • NM_173087.1:c.1333C>T
  • NP_000061.1:p.Arg493Trp
  • NP_077320.1:p.Arg493Trp
  • NP_775110.1:p.Arg445Trp
  • LRG_849t1:c.1477C>T
  • LRG_849:g.58661C>T
  • LRG_849p1:p.Arg493Trp
  • NC_000015.9:g.42693961C>T
  • NM_000070.2:c.1477C>T
  • P20807:p.Arg493Trp
Protein change:
R445W
Links:
UniProtKB: P20807#VAR_009585; dbSNP: rs557164942
NCBI 1000 Genomes Browser:
rs557164942
Molecular consequence:
  • NM_000070.3:c.1477C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024344.1:c.1477C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173087.1:c.1333C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000255655Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Jun 27, 2017)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV000331924EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely pathogenic
(Aug 18, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown4not providednot providednot providednot providedclinical testing

Citations

PubMed

Calpainopathy-a survey of mutations and polymorphisms.

Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JE, Anderson LV, Beley C, Cobo AM, de Diego C, Eymard B, Gallano P, Ginjaar HB, Lasa A, Pollitt C, Topaloglu H, Urtizberea JA, de Visser M, van der Kooi A, Bushby K, Bakker E, Lopez de Munain A, Fardeau M, et al.

Am J Hum Genet. 1999 Jun;64(6):1524-40.

PubMed [citation]
PMID:
10330340
PMCID:
PMC1377896

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

Groen EJ, Charlton R, Barresi R, Anderson LV, Eagle M, Hudson J, Koref MS, Straub V, Bushby KM.

Brain. 2007 Dec;130(Pt 12):3237-49.

PubMed [citation]
PMID:
18055493
See all PubMed Citations (5)

Details of each submission

From Athena Diagnostics Inc, SCV000255655.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000331924.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

Last Updated: May 10, 2021

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