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NM_024301.5(FKRP):c.663C>A (p.Ser221Arg) AND Muscular dystrophy-dystroglycanopathy type B5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 25, 2003
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:
RCV000004446.5

Allele description [Variation Report for NM_024301.5(FKRP):c.663C>A (p.Ser221Arg)]

NM_024301.5(FKRP):c.663C>A (p.Ser221Arg)

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.663C>A (p.Ser221Arg)
HGVS:
  • NC_000019.10:g.46756113C>A
  • NG_008898.2:g.15068C>A
  • NM_001039885.3:c.663C>A
  • NM_024301.5:c.663C>AMANE SELECT
  • NP_001034974.1:p.Ser221Arg
  • NP_077277.1:p.Ser221Arg
  • LRG_761t1:c.663C>A
  • LRG_761:g.15068C>A
  • LRG_761p1:p.Ser221Arg
  • NC_000019.9:g.47259370C>A
  • Q9H9S5:p.Ser221Arg
Protein change:
S221R; SER221ARG
Links:
UniProtKB: Q9H9S5#VAR_018284; OMIM: 606596.0008; dbSNP: rs28937902
NCBI 1000 Genomes Browser:
rs28937902
Molecular consequence:
  • NM_001039885.3:c.663C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.663C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Muscular dystrophy-dystroglycanopathy type B5 (MDDGB5)
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5; MUSCULAR DYSTROPHY, CONGENITAL, 1C; MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED
Identifiers:
MONDO: MONDO:0011688; MedGen: C1847759; OMIM: 606612

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024619OMIM
no assertion criteria provided
Pathogenic
(Mar 25, 2003) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

Topaloglu H, Brockington M, Yuva Y, Talim B, Haliloglu G, Blake D, Torelli S, Brown SC, Muntoni F.

Neurology. 2003 Mar 25;60(6):988-92.

PubMed [citation]
PMID:
12654965

Details of each submission

From OMIM, SCV000024619.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with congenital muscular dystrophy (MDDGB5; 606612), Topaloglu et al. (2003) identified a homozygous 663C-A transversion in the FKRP gene, resulting in a ser221-to-arg (S221R) substitution. In addition to the characteristic features of weakness, hypotonia, dystrophic muscle biopsy, and inability to walk, the patient also had mild mental retardation and cerebellar cysts. The authors noted that mental retardation and structural brain changes are not usually part of the clinical spectrum of patients with FKRP mutations, and that these findings may expand the phenotypic spectrum. Also see 606596.0007.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 30, 2023