U.S. flag

An official website of the United States government

NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 25, 2017
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:
RCV000313599.4

Allele description [Variation Report for NM_000070.3(CAPN3):c.1524G>A (p.Glu508=)]

NM_000070.3(CAPN3):c.1524G>A (p.Glu508=)

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.1524G>A (p.Glu508=)
HGVS:
  • NC_000015.10:g.42401810G>A
  • NG_008660.1:g.58708G>A
  • NM_000070.3:c.1524G>AMANE SELECT
  • NM_024344.2:c.1524G>A
  • NM_173087.2:c.1380G>A
  • NP_000061.1:p.Glu508=
  • NP_077320.1:p.Glu508=
  • NP_775110.1:p.Glu460=
  • LRG_849t1:c.1524G>A
  • LRG_849:g.58708G>A
  • LRG_849p1:p.Glu508=
  • NC_000015.9:g.42694008G>A
  • NM_000070.2:c.1524G>A
Links:
dbSNP: rs886043432
NCBI 1000 Genomes Browser:
rs886043432
Molecular consequence:
  • NM_000070.3:c.1524G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024344.2:c.1524G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_173087.2:c.1380G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000340082Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Likely pathogenic
(May 25, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia VM, Belsito A, Totaro A, Saccone V, Topaloglu H, Nascimbeni AC, Fulizio L, Broccolini A, Canki-Klain N, Comi LI, Nigro G, Angelini C, Nigro V.

J Med Genet. 2005 Sep;42(9):686-93.

PubMed [citation]
PMID:
16141003
PMCID:
PMC1736133

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.

Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, et al.

Hum Mutat. 2008 Feb;29(2):258-66.

PubMed [citation]
PMID:
17994539

Details of each submission

From Eurofins Ntd Llc (ga), SCV000340082.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 29, 2024