NM_024301.5(FKRP):c.946C>A (p.Pro316Thr) 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:: RCV000004445.4

Allele description [Variation Report for NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)]

NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)

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.946C>A (p.Pro316Thr)

HGVS:

NC_000019.10:g.46756396C>A
NG_008898.2:g.15351C>A
NM_001039885.3:c.946C>A
NM_024301.5:c.946C>AMANE SELECT
NP_001034974.1:p.Pro316Thr
NP_077277.1:p.Pro316Thr
LRG_761t1:c.946C>A
LRG_761:g.15351C>A
LRG_761p1:p.Pro316Thr
NC_000019.9:g.47259653C>A
NM_024301.4:c.946C>A

Protein change:

P316T; PRO316THR

Links:

OMIM: 606596.0007; dbSNP: rs28937901

NCBI 1000 Genomes Browser:

rs28937901

Molecular consequence:

NM_001039885.3:c.946C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024301.5:c.946C>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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minimaoside A [Supplementary Concept]
minimaoside A [Supplementary Concept]
from Centipeda minima; structure in first source<br/>Date introduced: March 17, 2010<br/>

MeSH
Pseudodidymella minima [Supplementary Concept]
Pseudodidymella minima [Supplementary Concept]
Date introduced: October 1, 2020<br/>

MeSH
Phaeoacremonium minimum [Supplementary Concept]
Phaeoacremonium minimum [Supplementary Concept]
Date introduced: October 1, 2020<br/>

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024618	OMIM	no assertion criteria provided	Pathogenic (Mar 25, 2003)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 11053680, 12654965

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024618

OMIM

no assertion criteria provided

Pathogenic
(Mar 25, 2003)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.

Talim B, Ferreiro A, Cormand B, Vignier N, Oto A, Göğüş S, Cila A, Lehesjoki AE, Pihko H, Guicheney P, Topaloğlu H.

Neuromuscul Disord. 2000 Dec;10(8):548-52.

PubMed [citation]

PMID:: 11053680

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, SCV000024618.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a patient with severe merosin-deficient congenital muscular dystrophy (MDDGB5; 606612) reported by Talim et al. (2000), Topaloglu et al. (2003) identified a homozygous 946C-A transversion in the FKRP gene, resulting in a pro316-to-thr (P316T) substitution. The patient was from a consanguineous family, and showed hypotonia, muscle weakness, a myopathic face, and high-arched palate by age 1.5 years. She also had lordosis and scoliosis, and was never able to stand or walk. In addition, she had mild mental retardation and multiple small cysts in the cerebellar cortical and subcortical areas of the brain. Also see 606596.0008.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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