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NM_000070.3(CAPN3):c.1621C>G (p.Arg541Gly) AND CAPN3-related disorder

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001535803.1

Allele description [Variation Report for NM_000070.3(CAPN3):c.1621C>G (p.Arg541Gly)]

NM_000070.3(CAPN3):c.1621C>G (p.Arg541Gly)

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.1621C>G (p.Arg541Gly)
HGVS:
  • NC_000015.10:g.42402878C>G
  • NG_008660.1:g.59776C>G
  • NM_000070.3:c.1621C>GMANE SELECT
  • NM_024344.2:c.1621C>G
  • NM_173087.2:c.1477C>G
  • NM_173088.2:c.85C>G
  • NP_000061.1:p.Arg541Gly
  • NP_077320.1:p.Arg541Gly
  • NP_775110.1:p.Arg493Gly
  • NP_775111.1:p.Arg29Gly
  • LRG_849t1:c.1621C>G
  • LRG_849:g.59776C>G
  • LRG_849p1:p.Arg541Gly
  • NC_000015.9:g.42695076C>G
  • NM_000070.2:c.1621C>G
Protein change:
R29G
Links:
dbSNP: rs142004418
NCBI 1000 Genomes Browser:
rs142004418
Molecular consequence:
  • NM_000070.3:c.1621C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024344.2:c.1621C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173087.2:c.1477C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173088.2:c.85C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CAPN3-related disorder
Synonyms:
CAPN3-Related Disorders; CAPN3-related condition
Identifiers:
MedGen: CN239245

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749974GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749974.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 03-09-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Sep 29, 2024