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NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 21, 2020
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:
RCV002381576.2

Allele description [Variation Report for NM_024301.5(FKRP):c.1376C>T (p.Ala459Val)]

NM_024301.5(FKRP):c.1376C>T (p.Ala459Val)

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.1376C>T (p.Ala459Val)
HGVS:
  • NC_000019.10:g.46756826C>T
  • NG_008898.2:g.15781C>T
  • NM_001039885.3:c.1376C>T
  • NM_024301.5:c.1376C>TMANE SELECT
  • NP_001034974.1:p.Ala459Val
  • NP_077277.1:p.Ala459Val
  • LRG_761t1:c.1376C>T
  • LRG_761:g.15781C>T
  • LRG_761p1:p.Ala459Val
  • NC_000019.9:g.47260083C>T
  • NM_024301.4:c.1376C>T
Protein change:
A459V
Links:
dbSNP: rs749109905
NCBI 1000 Genomes Browser:
rs749109905
Molecular consequence:
  • NM_001039885.3:c.1376C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.1376C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002699503Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 21, 2020) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV002699503.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.A459V variant (also known as c.1376C>T), located in coding exon 1 of the FKRP gene, results from a C to T substitution at nucleotide position 1376. The alanine at codon 459 is replaced by valine, an amino acid with similar properties. This alteration has been reported in a limb girdle muscular dystrophy cohort (Nallamilli BRR et al. Ann Clin Transl Neurol, 2018 Dec;5:1574-1587). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024