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NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 13, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000479855.1

Allele description [Variation Report for NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys)]

NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys)

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.46G>A (p.Glu16Lys)
HGVS:
  • NC_000015.10:g.42359851G>A
  • NG_008660.1:g.16749G>A
  • NM_000070.3:c.46G>AMANE SELECT
  • NM_024344.2:c.46G>A
  • NM_173087.2:c.46G>A
  • NP_000061.1:p.Glu16Lys
  • NP_077320.1:p.Glu16Lys
  • NP_775110.1:p.Glu16Lys
  • LRG_849t1:c.46G>A
  • LRG_849:g.16749G>A
  • LRG_849p1:p.Glu16Lys
  • NC_000015.9:g.42652049G>A
  • NM_000070.2:c.46G>A
Protein change:
E16K
Links:
dbSNP: rs772580081
NCBI 1000 Genomes Browser:
rs772580081
Molecular consequence:
  • NM_000070.3:c.46G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024344.2:c.46G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173087.2:c.46G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000572417GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 13, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000572417.3

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

Description

The E16K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E16K variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with LGMD2A (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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

Last Updated: Aug 11, 2024