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NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 27, 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:
RCV002356387.3

Allele description [Variation Report for NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln)]

NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln)

Gene:
FKTN:fukutin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln)
Other names:
p.Arg128Gln
HGVS:
  • NC_000009.12:g.105604228G>A
  • NG_008754.1:g.51099G>A
  • NM_001079802.2:c.383G>AMANE SELECT
  • NM_001198963.2:c.383G>A
  • NM_001351496.2:c.383G>A
  • NM_001351497.2:c.314G>A
  • NM_001351498.2:c.383G>A
  • NM_001351499.2:c.-14G>A
  • NM_001351500.2:c.-14G>A
  • NM_001351501.2:c.-14G>A
  • NM_001351502.2:c.-14G>A
  • NM_006731.2:c.383G>A
  • NP_001073270.1:p.Arg128Gln
  • NP_001073270.1:p.Arg128Gln
  • NP_001185892.1:p.Arg128Gln
  • NP_001338425.1:p.Arg128Gln
  • NP_001338426.1:p.Arg105Gln
  • NP_001338427.1:p.Arg128Gln
  • NP_006722.2:p.Arg128Gln
  • LRG_434t1:c.383G>A
  • LRG_434t2:c.383G>A
  • LRG_434:g.51099G>A
  • LRG_434p1:p.Arg128Gln
  • LRG_434p2:p.Arg128Gln
  • NC_000009.11:g.108366509G>A
  • NM_001079802.1:c.383G>A
  • NM_006731.2:c.383G>A
  • NR_147213.2:n.598G>A
  • NR_147214.2:n.506G>A
Protein change:
R105Q
Links:
dbSNP: rs146049441
NCBI 1000 Genomes Browser:
rs146049441
Molecular consequence:
  • NM_001351499.2:c.-14G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351500.2:c.-14G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351501.2:c.-14G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351502.2:c.-14G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001079802.2:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001198963.2:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351496.2:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351497.2:c.314G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351498.2:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006731.2:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147213.2:n.598G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147214.2:n.506G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002621668Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 27, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002621668.3

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

Description

The p.R128Q variant (also known as c.383G>A), located in coding exon 4 of the FKTN gene, results from a G to A substitution at nucleotide position 383. The arginine at codon 128 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated 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: May 16, 2025