NM_024301.5(FKRP):c.731G>A (p.Arg244His) AND Autosomal recessive limb-girdle muscular dystrophy type 2I

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 12, 2020
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:: RCV000664793.5

Allele description [Variation Report for NM_024301.5(FKRP):c.731G>A (p.Arg244His)]

NM_024301.5(FKRP):c.731G>A (p.Arg244His)

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.731G>A (p.Arg244His)

HGVS:

NC_000019.10:g.46756181G>A
NG_008898.2:g.15136G>A
NM_001039885.3:c.731G>A
NM_024301.5:c.731G>AMANE SELECT
NP_001034974.1:p.Arg244His
NP_077277.1:p.Arg244His
LRG_761t1:c.731G>A
LRG_761:g.15136G>A
LRG_761p1:p.Arg244His
NC_000019.9:g.47259438G>A
NM_024301.4:c.731G>A

Protein change:

R244H

Links:

dbSNP: rs764641619

NCBI 1000 Genomes Browser:

rs764641619

Molecular consequence:

NM_001039885.3:c.731G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024301.5:c.731G>A - missense variant - [Sequence Ontology: SO:0001583]

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
Identifiers:: MONDO: MONDO:0011787; MedGen: C1846672; Orphanet: 34515; OMIM: 607155

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000788808	Counsyl	no assertion criteria provided	Uncertain significance (Dec 16, 2016)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001460339	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jan 12, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000788808

Counsyl

no assertion criteria provided

Uncertain significance
(Dec 16, 2016)

unknown

clinical testing

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

SCV001460339

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Jan 12, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A, Siciliano G, Angelini C, Pegoraro E.

Arch Neurol. 2005 Dec;62(12):1894-9.

PubMed [citation]

PMID:: 16344347

Details of each submission

From Counsyl, SCV000788808.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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

From Natera, Inc., SCV001460339.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Jul 5, 2025

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