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NM_024301.5(FKRP):c.1388A>T (p.Asn463Ile) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 12, 2019
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:
RCV002395858.2

Allele description [Variation Report for NM_024301.5(FKRP):c.1388A>T (p.Asn463Ile)]

NM_024301.5(FKRP):c.1388A>T (p.Asn463Ile)

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.1388A>T (p.Asn463Ile)
HGVS:
  • NC_000019.10:g.46756838A>T
  • NG_008898.2:g.15793A>T
  • NM_001039885.3:c.1388A>T
  • NM_024301.5:c.1388A>TMANE SELECT
  • NP_001034974.1:p.Asn463Ile
  • NP_077277.1:p.Asn463Ile
  • LRG_761t1:c.1388A>T
  • LRG_761:g.15793A>T
  • LRG_761p1:p.Asn463Ile
  • NC_000019.9:g.47260095A>T
  • NM_024301.4:c.1388A>T
Protein change:
N463I
Links:
dbSNP: rs2122636612
NCBI 1000 Genomes Browser:
rs2122636612
Molecular consequence:
  • NM_001039885.3:c.1388A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.1388A>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
SCV002695945Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 12, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002695945.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.N463I variant (also known as c.1388A>T), located in coding exon 1 of the FKRP gene, results from an A to T substitution at nucleotide position 1388. The asparagine at codon 463 is replaced by isoleucine, an amino acid with dissimilar properties. Another alteration affecting the same amino acid, p.N463D (c.1388A>G), has been reported in association with FKRP-related disease ((MacLeod H et al. Neuromuscul. Disord., 2007 Apr;17:285-9). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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