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NM_024301.5(FKRP):c.1270A>C (p.Asn424His) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 29, 2024
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:
RCV002376962.2

Allele description [Variation Report for NM_024301.5(FKRP):c.1270A>C (p.Asn424His)]

NM_024301.5(FKRP):c.1270A>C (p.Asn424His)

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.1270A>C (p.Asn424His)
HGVS:
  • NC_000019.10:g.46756720A>C
  • NG_008898.2:g.15675A>C
  • NM_001039885.3:c.1270A>C
  • NM_024301.5:c.1270A>CMANE SELECT
  • NP_001034974.1:p.Asn424His
  • NP_077277.1:p.Asn424His
  • LRG_761t1:c.1270A>C
  • LRG_761:g.15675A>C
  • LRG_761p1:p.Asn424His
  • NC_000019.9:g.47259977A>C
  • NM_001039885.2:c.1270A>C
  • NM_024301.4:c.1270A>C
Protein change:
N424H
Links:
dbSNP: rs769568971
NCBI 1000 Genomes Browser:
rs769568971
Molecular consequence:
  • NM_001039885.3:c.1270A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.1270A>C - 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
SCV002684004Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 29, 2024) 		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, SCV002684004.2

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

Description

The p.N424H variant (also known as c.1270A>C), located in coding exon 1 of the FKRP gene, results from an A to C substitution at nucleotide position 1270. The asparagine at codon 424 is replaced by histidine, an amino acid with similar properties. This amino acid position is well 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: Oct 20, 2024