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NM_024301.5(FKRP):c.607C>T (p.Arg203Cys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 4, 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:
RCV003308140.3

Allele description [Variation Report for NM_024301.5(FKRP):c.607C>T (p.Arg203Cys)]

NM_024301.5(FKRP):c.607C>T (p.Arg203Cys)

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.607C>T (p.Arg203Cys)
HGVS:
  • NC_000019.10:g.46756057C>T
  • NG_008898.2:g.15012C>T
  • NM_001039885.3:c.607C>T
  • NM_024301.4:c.607C>T
  • NM_024301.5:c.607C>TMANE SELECT
  • NP_001034974.1:p.Arg203Cys
  • NP_077277.1:p.Arg203Cys
  • LRG_761t1:c.607C>T
  • LRG_761:g.15012C>T
  • LRG_761p1:p.Arg203Cys
  • NC_000019.9:g.47259314C>T
Protein change:
R203C
Molecular consequence:
  • NM_001039885.3:c.607C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.607C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004003018Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 4, 2023) 		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

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.

Sframeli M, Sarkozy A, Bertoli M, Astrea G, Hudson J, Scoto M, Mein R, Yau M, Phadke R, Feng L, Sewry C, Fen ANS, Longman C, McCullagh G, Straub V, Robb S, Manzur A, Bushby K, Muntoni F.

Neuromuscul Disord. 2017 Sep;27(9):793-803. doi: 10.1016/j.nmd.2017.06.008. Epub 2017 Jun 16.

PubMed [citation]
PMID:
28688748

Details of each submission

From Ambry Genetics, SCV004003018.2

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

Description

The p.R203C variant (also known as c.607C>T), located in coding exon 1 of the FKRP gene, results from a C to T substitution at nucleotide position 607. The arginine at codon 203 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration has been reported in a muscular dystrophy cohort (Sframeli M et al. Neuromuscul Disord, 2017 Sep;27:793-803). 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: Oct 20, 2024