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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 29, 2024
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:: RCV004619208.1

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:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005118128	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 29, 2024)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 18832576, 24257234, 32342672, 32429923 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005118128

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 29, 2024)

germline

clinical testing

PubMed (4)
[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	germline	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

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV005118128.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

The p.G196R variant (also known as c.586G>A), located in coding exon 1 of the FKRP gene, results from a G to A substitution at nucleotide position 586. The glycine at codon 196 is replaced by arginine, an amino acid with dissimilar properties. This variant has co-occurred with other variants in FKRP in individuals with features of limb girdle muscular dystrophy; however, details were limited (Kesari A et al. Am J Pathol, 2008 Nov;173:1476-87; Murphy LB et al. Ann Clin Transl Neurol, 2020 May;7:757-766; Leung DG et al. BMC Neurol, 2020 May;20:196). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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