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NM_000070.3(CAPN3):c.1684G>A (p.Glu562Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 21, 2023
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:
RCV003340646.2

Allele description [Variation Report for NM_000070.3(CAPN3):c.1684G>A (p.Glu562Lys)]

NM_000070.3(CAPN3):c.1684G>A (p.Glu562Lys)

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.1684G>A (p.Glu562Lys)
HGVS:
  • NC_000015.10:g.42402941G>A
  • NG_008660.1:g.59839G>A
  • NM_000070.2:c.1684G>A
  • NM_000070.3:c.1684G>AMANE SELECT
  • NM_024344.2:c.1684G>A
  • NM_173087.2:c.1540G>A
  • NM_173088.2:c.148G>A
  • NM_212464.2:c.*800G>A
  • NM_212467.2:c.*1377G>A
  • NP_000061.1:p.Glu562Lys
  • NP_077320.1:p.Glu562Lys
  • NP_775110.1:p.Glu514Lys
  • NP_775111.1:p.Glu50Lys
  • LRG_849t1:c.1684G>A
  • LRG_849:g.59839G>A
  • LRG_849p1:p.Glu562Lys
  • NC_000015.9:g.42695139G>A
Protein change:
E50K
Molecular consequence:
  • NM_000070.3:c.1684G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024344.2:c.1684G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173087.2:c.1540G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173088.2:c.148G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004058739Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 21, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004058739.2

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

Description

The c.1684G>A (p.E562K) alteration is located in exon 13 (coding exon 13) of the CAPN3 gene. This alteration results from a G to A substitution at nucleotide position 1684, causing the glutamic acid (E) at amino acid position 562 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024