NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 15, 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:
RCV000518261.2

Allele description [Variation Report for NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)]

NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)

Gene:
CAPN3:calpain 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q15.1
Genomic location:
Preferred name:
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)
HGVS:
  • NC_000015.10:g.42405938dup
  • NG_008660.1:g.62836dup
  • NM_000070.3:c.1795dupMANE SELECT
  • NM_024344.1:c.1782+2161dup
  • NM_173087.1:c.1638+2161dup
  • NM_173088.1:c.259dup
  • NM_173089.1:c.-82+983dup
  • NM_173090.1:c.-87dup
  • NP_000061.1:p.Thr599fs
  • NP_775111.1:p.Thr87fs
  • LRG_849t1:c.1795dup
  • LRG_849:g.62836dup
  • LRG_849p1:p.Thr599fs
  • NC_000015.9:g.42698129_42698130insA
  • NC_000015.9:g.42698136dup
  • NM_000070.2:c.1795dupA
  • NM_000070.3:c.1795dupAMANE SELECT
  • p.Thr599Asnfs*33
Protein change:
T599fs
Links:
OMIM: 114240.0008; dbSNP: rs80338803
NCBI 1000 Genomes Browser:
rs80338803
Molecular consequence:
  • NM_173090.1:c.-87dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000070.3:c.1795dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_173088.1:c.259dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_024344.1:c.1782+2161dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_173087.1:c.1638+2161dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_173089.1:c.-82+983dup - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000612637Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Mar 15, 2017)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV000701857EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Nov 29, 2016)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317
See all PubMed Citations (6)

Details of each submission

From Athena Diagnostics Inc, SCV000612637.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000701857.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 26, 2021

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