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NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys) AND Autosomal recessive limb-girdle muscular dystrophy type 2I

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 8, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003107986.3

Allele description [Variation Report for NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)]

NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)

Gene:
FKRP:fukutin related protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)
HGVS:
  • NC_000019.10:g.46756777G>A
  • NG_008898.2:g.15732G>A
  • NM_001039885.3:c.1327G>A
  • NM_024301.5:c.1327G>AMANE SELECT
  • NP_001034974.1:p.Glu443Lys
  • NP_077277.1:p.Glu443Lys
  • LRG_761t1:c.1327G>A
  • LRG_761:g.15732G>A
  • LRG_761p1:p.Glu443Lys
  • NC_000019.9:g.47260034G>A
Protein change:
E443K
Molecular consequence:
  • NM_001039885.3:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2I
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011787; MedGen: C1846672; Orphanet: 34515; OMIM: 607155

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002558808Department of Medical Genetics, National Institute of Health
no assertion criteria provided
Likely pathogenic
(Aug 8, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Moroccangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Medical Genetics, National Institute of Health, SCV002558808.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Moroccan1not providednot providedclinical testingnot provided

Description

We investigated an eleven-year-old Moroccan consanguineous female, with no particular familial history. The first clinical signs started with a frequent fall and calf hypertrophy at 4 of age. The patient still walks on tiptoes and is not mentally retarded. Her serum creatine kinase (CK) level was 20 times increased from normal range. Electromyography (EMG) showed a myogenic pattern in muscles of upper and lower limbs. A Next-Generation Sequencing analysis (NGS) was performed for our patient. Two variants were detected in exon 4 of the FKRP gene including a new variant never reported in databases: NM_024301.5(FKRP):c.1364C>A; p.Ala455Asp known as pathogenic and NM_024301.5(FKRP):c.1327G>A. Direct Sanger sequencing showed that each one of the patient’s parents harbors one of the two mutations at heterozygous state.

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

Last Updated: Jun 23, 2024