NM_000070.3(CAPN3):c.1746-20C>G AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Aug 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000585323.5

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]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000568286GeneDxcriteria provided, single submitter
Likely benign
(Jun 6, 2018)
germlineclinical testing

Citation Link,

SCV000692807CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Aug 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000568286.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 18055493, 28877744, 20635405, 17994539, 17979987, 17157502, 16141003, 16411092, 15351423, 16372320, 27447704, 27708273, 26886200, 27884173, 26301378, 28602176, 25135358, 18854869, 30028523, 30919934, 31788660, 32403337, 31127727)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000692807.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 26, 2021

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