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NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu) AND Autosomal recessive limb-girdle muscular dystrophy type 2A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 15, 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:
RCV000660877.2

Allele description [Variation Report for NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu)]

NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu)

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.291C>A (p.Phe97Leu)
HGVS:
  • NC_000015.10:g.42360096C>A
  • NG_008660.1:g.16994C>A
  • NM_000070.3:c.291C>AMANE SELECT
  • NM_024344.2:c.291C>A
  • NM_173087.2:c.291C>A
  • NP_000061.1:p.Phe97Leu
  • NP_077320.1:p.Phe97Leu
  • NP_775110.1:p.Phe97Leu
  • LRG_849t1:c.291C>A
  • LRG_849:g.16994C>A
  • LRG_849p1:p.Phe97Leu
  • NC_000015.9:g.42652294C>A
  • NM_000070.2:c.291C>A
Protein change:
F97L
Links:
dbSNP: rs758058910
NCBI 1000 Genomes Browser:
rs758058910
Molecular consequence:
  • NM_000070.3:c.291C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024344.2:c.291C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173087.2:c.291C>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
missing protein [Variation Ontology: 0240]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1)
Synonyms:
Limb-girdle muscular dystrophy, type 2A; Limb-girdle muscular dystrophy type 2; Muscular dystrophy, pelvofemoral; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009675; MedGen: C1869123; Orphanet: 267; OMIM: 253600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000778371Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 15, 2017) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedresearch

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 Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center, SCV000778371.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearch PubMed (1)

Description

c.291C>A (p.Phe97Leu) mutation was identified in a patient diagnosed with Limb girdle muscular dystrophy type 2A (LGMD2A). The diagnosis of LGMD2A was first suspected on the basis of a typical clinical localization of the muscle weakness and further confirmed by immunoblotting and molecular analysis. His family history is pertinent as his parents were first degree cousins, but none of his three younger brothers showed clinical evidence of similarly evolving dystrophic process.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024