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NM_000070.2(CAPN3):c.2305C>T (p.Arg769Trp) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 14, 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:
RCV000343706.1

Allele description

NM_000070.2(CAPN3):c.2305C>T (p.Arg769Trp)

Gene:
CAPN3:calpain 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q15.1
Genomic location:
Preferred name:
NM_000070.2(CAPN3):c.2305C>T (p.Arg769Trp)
HGVS:
  • NC_000015.10:g.42410925C>T
  • NG_008660.1:g.67823C>T
  • NM_000070.2:c.2305C>T
  • NP_000061.1:p.Arg769Trp
  • NC_000015.9:g.42703123C>T
Protein change:
R769W
Links:
dbSNP: rs868791726
NCBI 1000 Genomes Browser:
rs868791726
Molecular consequence:
  • NM_000070.2:c.2305C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000333874EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
criteria provided, single submitter

(EGL Classification Definitions)		Likely pathogenic
(Jan 14, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000333874.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided

Description

The c.2305C>T (p.R769W) CAPN3 variant has been reported in an individual with LGMD2A1 and is classified as likely pathogenic. 1. Tian et al. Neurol Genet. 2015 Aug 13;1(2):e14. AKT 9-19-16

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Dec 26, 2017