NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) AND Autosomal recessive limb-girdle muscular dystrophy type 2I

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 7, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000674993.1

Allele description [Variation Report for NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)]

NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)

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.586G>A (p.Gly196Arg)

HGVS:

NC_000019.10:g.46756036G>A
NG_008898.2:g.14991G>A
NM_001039885.3:c.586G>A
NM_024301.5:c.586G>AMANE SELECT
NP_001034974.1:p.Gly196Arg
NP_077277.1:p.Gly196Arg
LRG_761t1:c.586G>A
LRG_761:g.14991G>A
LRG_761p1:p.Gly196Arg
NC_000019.9:g.47259293G>A
NM_024301.4:c.586G>A

Protein change:

G196R

Links:

dbSNP: rs759875552

NCBI 1000 Genomes Browser:

rs759875552

Molecular consequence:

NM_001039885.3:c.586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024301.5:c.586G>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; 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
SCV000800415	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jun 7, 2018)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18832576, 24257234 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000800415

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Jun 7, 2018)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.

Kesari A, Fukuda M, Knoblach S, Bashir R, Nader GA, Rao D, Nagaraju K, Hoffman EP.

Am J Pathol. 2008 Nov;173(5):1476-87. doi: 10.2353/ajpath.2008.080098. Epub 2008 Oct 2.

PubMed [citation]

PMID:: 18832576
PMCID:: PMC2570137

Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I.

McMillan HJ, Michaud J.

Can J Neurol Sci. 2013 Nov;40(6):875-7. No abstract available.

PubMed [citation]

PMID:: 24257234

Details of each submission

From Counsyl, SCV000800415.1

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

#	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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine