NM_024301.5(FKRP):c.764G>A (p.Trp255Ter) AND Autosomal recessive limb-girdle muscular dystrophy type 2I

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 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:: RCV000004451.3

Allele description [Variation Report for NM_024301.5(FKRP):c.764G>A (p.Trp255Ter)]

NM_024301.5(FKRP):c.764G>A (p.Trp255Ter)

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.764G>A (p.Trp255Ter)

HGVS:

NC_000019.10:g.46756214G>A
NG_008898.2:g.15169G>A
NM_001039885.3:c.764G>A
NM_024301.5:c.764G>AMANE SELECT
NP_001034974.1:p.Trp255Ter
NP_077277.1:p.Trp255Ter
LRG_761t1:c.764G>A
LRG_761:g.15169G>A
LRG_761p1:p.Trp255Ter
NC_000019.9:g.47259471G>A

Protein change:

W255*; TRP255TER

Links:

OMIM: 606596.0013; dbSNP: rs104894689

NCBI 1000 Genomes Browser:

rs104894689

Molecular consequence:

NM_001039885.3:c.764G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_024301.5:c.764G>A - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024624	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024624

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 2003)

germline

literature only

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

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

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

de Paula F, Vieira N, Starling A, Yamamoto LU, Lima B, de Cássia Pavanello R, Vainzof M, Nigro V, Zatz M.

Eur J Hum Genet. 2003 Dec;11(12):923-30.

PubMed [citation]

PMID:: 14647208

Details of each submission

From OMIM, SCV000024624.2

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

Description

For discussion of the 764G-A transition in the FKRP gene, resulting in a trp255-to-ter (W255X; 606596.0013) substitution, that was found in compound heterozygous state in Brazilian patients with a severe form of LGMD (MDDGC5; 607155) by de Paula et al. (2003), see 606596.0012.

#	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: Jul 29, 2023

ClinVar

Relating variation to medicine