NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 10, 2023
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:: RCV002374484.3

Allele description [Variation Report for NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)]

NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)

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.904G>A (p.Gly302Ser)

HGVS:

NC_000019.10:g.46756354G>A
NG_008898.2:g.15309G>A
NM_001039885.3:c.904G>A
NM_024301.5:c.904G>AMANE SELECT
NP_001034974.1:p.Gly302Ser
NP_077277.1:p.Gly302Ser
LRG_761t1:c.904G>A
LRG_761:g.15309G>A
LRG_761p1:p.Gly302Ser
NC_000019.9:g.47259611G>A
NM_024301.4:c.904G>A

Protein change:

G302S

Links:

dbSNP: rs762283381

NCBI 1000 Genomes Browser:

rs762283381

Molecular consequence:

NM_001039885.3:c.904G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024301.5:c.904G>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
SCV002688068	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 10, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002688068

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 10, 2023)

germline

clinical testing

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

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

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander JJ, Askree SH, Whitt Z, Bean L, Collins C, Khadilkar S, Gaitonde P, Dastur R, Wicklund M, Mozaffar T, Harms M, Rufibach L, Mittal P, Hegde M.

Ann Clin Transl Neurol. 2018 Dec;5(12):1574-1587. doi: 10.1002/acn3.649.

PubMed [citation]

PMID:: 30564623
PMCID:: PMC6292381

Details of each submission

From Ambry Genetics, SCV002688068.3

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

Description

The p.G302S variant (also known as c.904G>A), located in coding exon 1 of the FKRP gene, results from a G to A substitution at nucleotide position 904. The glycine at codon 302 is replaced by serine, an amino acid with similar properties. This variant has been detected in the heterozygous state in two individuals from a cohort with suspected limb-girdle muscular dystrophies; however, details were limited (Nallamilli BRR et al. Ann Clin Transl Neurol. 2018 Dec;5(12):1574-1587). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, 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: Oct 8, 2024

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