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NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 13, 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:
RCV002386242.2

Allele description [Variation Report for NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)]

NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)

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.1363G>T (p.Ala455Ser)
HGVS:
  • NC_000019.10:g.46756813G>T
  • NG_008898.2:g.15768G>T
  • NM_001039885.3:c.1363G>T
  • NM_024301.5:c.1363G>TMANE SELECT
  • NP_001034974.1:p.Ala455Ser
  • NP_077277.1:p.Ala455Ser
  • LRG_761t1:c.1363G>T
  • LRG_761:g.15768G>T
  • LRG_761p1:p.Ala455Ser
  • NC_000019.9:g.47260070G>T
  • NM_024301.4:c.1363G>T
Protein change:
A455S
Links:
dbSNP: rs747785577
NCBI 1000 Genomes Browser:
rs747785577
Molecular consequence:
  • NM_001039885.3:c.1363G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.1363G>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
SCV002702133Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 13, 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

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.

Louhichi N, Triki C, Quijano-Roy S, Richard P, Makri S, Méziou M, Estournet B, Mrad S, Romero NB, Ayadi H, Guicheney P, Fakhfakh F.

Neurogenetics. 2004 Feb;5(1):27-34. Epub 2003 Dec 2.

PubMed [citation]
PMID:
14652796
PMCID:
PMC2244647

Details of each submission

From Ambry Genetics, SCV002702133.2

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

Description

The p.A455S variant (also known as c.1363G>T), located in coding exon 1 of the FKRP gene, results from a G to T substitution at nucleotide position 1363. The alanine at codon 455 is replaced by serine, an amino acid with similar properties. Another alteration affecting the same amino acid, p.A455D (c.1364C>A), has been reported in association with congenital muscular dystrophy (Louhichi N et al. Neurogenetics, 2004 Feb;5:27-34). 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