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NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys) AND Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2001
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:
RCV002226438.9

Allele description [Variation Report for NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys)]

NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys)

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.926A>G (p.Tyr309Cys)
HGVS:
  • NC_000019.10:g.46756376A>G
  • NG_008898.2:g.15331A>G
  • NM_001039885.3:c.926A>G
  • NM_024301.4:c.926A>G
  • NM_024301.5:c.926A>GMANE SELECT
  • NP_001034974.1:p.Tyr309Cys
  • NP_077277.1:p.Tyr309Cys
  • LRG_761t1:c.926A>G
  • LRG_761:g.15331A>G
  • LRG_761p1:p.Tyr309Cys
  • NC_000019.9:g.47259633A>G
  • NM_024301.5:c.926A>G
  • Q9H9S5:p.Tyr309Cys
Protein change:
Y309C; TYR309CYS
Links:
UniProtKB: Q9H9S5#VAR_018286; OMIM: 606596.0001; dbSNP: rs104894679
NCBI 1000 Genomes Browser:
rs104894679
Molecular consequence:
  • NM_001039885.3:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5
Identifiers:
MedGen: C4016970

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024612OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2001) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?

Mercuri E, Sewry CA, Brown SC, Brockington M, Jungbluth H, DeVile C, Counsell S, Manzur A, Muntoni F.

Neuropediatrics. 2000 Aug;31(4):186-9.

PubMed [citation]
PMID:
11071142

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F.

Am J Hum Genet. 2001 Dec;69(6):1198-209. Epub 2001 Oct 8.

PubMed [citation]
PMID:
11592034
PMCID:
PMC1235559

Details of each submission

From OMIM, SCV000024612.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Mercuri et al. (2000) described the clinical features of 2 sibs in a Scottish family who appeared to be affected by a novel form of congenital muscular dystrophy (MDDGB5; 606612). Both children presented soon after birth with hypotonia and feeding difficulties. They never acquired the ability to walk because of severe weakness, which also affected their facial muscles. Weakness was greater in the arms than legs, with prominent wasting of the deltoids and pectoral muscles, whereas both calf and quadriceps muscles were hypertrophied. Cognitive development, intelligence, and vision were normal, as was brain MRI. Serum creatine kinase was markedly elevated. The older sib died suddenly at age 7 years, following an upper respiratory tract infection. Brockington et al. (2001) found that these affected sibs were compound heterozygotes for mutations in the FKRP gene: tyr309-to-cys (Y309C) and ser385-to-ter (S385X; 606596.0002).

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

Last Updated: Feb 25, 2025