NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 1, 2019)

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:
RCV000724737.2

Allele description [Variation Report for NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)]

NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)

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.1543G>A (p.Gly515Arg)
HGVS:
  • NC_000015.10:g.42402800G>A
  • NG_008660.1:g.59698G>A
  • NM_000070.3:c.1543G>AMANE SELECT
  • NM_024344.1:c.1543G>A
  • NM_173087.1:c.1399G>A
  • NM_173088.1:c.7G>A
  • NP_000061.1:p.Gly515Arg
  • NP_077320.1:p.Gly515Arg
  • NP_775110.1:p.Gly467Arg
  • NP_775111.1:p.Gly3Arg
  • LRG_849t1:c.1543G>A
  • LRG_849:g.59698G>A
  • LRG_849p1:p.Gly515Arg
  • NC_000015.9:g.42694998G>A
  • NM_000070.2:c.1543G>A
Protein change:
G3R
Links:
dbSNP: rs150226817
NCBI 1000 Genomes Browser:
rs150226817
Molecular consequence:
  • NM_000070.3:c.1543G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024344.1:c.1543G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173087.1:c.1399G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173088.1:c.7G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
10

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000331893EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Aug 10, 2018)
germlineclinical testing

Citation Link,

SCV001247172CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Aug 1, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown9not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000331893.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided9not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided9not providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001247172.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 27, 2021

Support Center