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NM_000070.2(CAPN3):c.2235C>T (p.Tyr745=) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 9, 2015
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:
RCV000176142.1

Allele description

NM_000070.2(CAPN3):c.2235C>T (p.Tyr745=)

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.2235C>T (p.Tyr745=)
HGVS:
  • NC_000015.10:g.42410638C>T
  • NG_008660.1:g.67536C>T
  • NM_000070.2:c.2235C>T
  • NP_000061.1:p.Tyr745=
  • NC_000015.9:g.42702836C>T
Links:
dbSNP: rs147774793
NCBI 1000 Genomes Browser:
rs147774793
Molecular consequence:
  • NM_000070.2:c.2235C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000227750Emory Genetics Laboratory,Emory University
criteria provided, single submitter

(EGL Classification Definitions)		Uncertain significance
(Feb 9, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Emory Genetics Laboratory,Emory University, SCV000227750.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 26, 2016