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NM_000070.3(CAPN3):c.1502C>T (p.Thr501Ile) AND Abnormality of the musculature

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 10, 2021
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:
RCV001814382.1

Allele description [Variation Report for NM_000070.3(CAPN3):c.1502C>T (p.Thr501Ile)]

NM_000070.3(CAPN3):c.1502C>T (p.Thr501Ile)

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.1502C>T (p.Thr501Ile)
HGVS:
  • NC_000015.10:g.42401788C>T
  • NG_008660.1:g.58686C>T
  • NM_000070.3:c.1502C>TMANE SELECT
  • NM_024344.2:c.1502C>T
  • NM_173087.2:c.1358C>T
  • NP_000061.1:p.Thr501Ile
  • NP_077320.1:p.Thr501Ile
  • NP_775110.1:p.Thr453Ile
  • LRG_849t1:c.1502C>T
  • LRG_849:g.58686C>T
  • LRG_849p1:p.Thr501Ile
  • NC_000015.9:g.42693986C>T
Protein change:
T453I
Links:
dbSNP: rs751104396
NCBI 1000 Genomes Browser:
rs751104396
Molecular consequence:
  • NM_000070.3:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024344.2:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173087.2:c.1358C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Abnormality of the musculature
Identifiers:
MedGen: C4021745; Human Phenotype Ontology: HP:0003011

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001755219Kariminejad - Najmabadi Pathology & Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 10, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755219.1

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

Last Updated: Sep 29, 2024