NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 23, 2021
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:: RCV002328768.2

Allele description [Variation Report for NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)]

NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)

Gene:

FKTN:fukutin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.2

Genomic location:

Preferred name:

NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)

HGVS:

NC_000009.12:g.105604282G>A
NG_008754.1:g.51153G>A
NM_001079802.2:c.437G>AMANE SELECT
NM_001198963.2:c.437G>A
NM_001351496.2:c.437G>A
NM_001351497.2:c.368G>A
NM_001351498.2:c.437G>A
NM_001351499.2:c.41G>A
NM_001351500.2:c.41G>A
NM_001351501.2:c.41G>A
NM_001351502.2:c.41G>A
NM_006731.2:c.437G>A
NP_001073270.1:p.Arg146Gln
NP_001073270.1:p.Arg146Gln
NP_001185892.1:p.Arg146Gln
NP_001338425.1:p.Arg146Gln
NP_001338426.1:p.Arg123Gln
NP_001338427.1:p.Arg146Gln
NP_001338428.1:p.Arg14Gln
NP_001338429.1:p.Arg14Gln
NP_001338430.1:p.Arg14Gln
NP_001338431.1:p.Arg14Gln
NP_006722.2:p.Arg146Gln
LRG_434t1:c.437G>A
LRG_434t2:c.437G>A
LRG_434:g.51153G>A
LRG_434p1:p.Arg146Gln
LRG_434p2:p.Arg146Gln
NC_000009.11:g.108366563G>A
NM_001079802.1:c.437G>A
NR_147213.2:n.652G>A
NR_147214.2:n.560G>A

Protein change:

R123Q

Links:

dbSNP: rs143748939

NCBI 1000 Genomes Browser:

rs143748939

Molecular consequence:

NM_001079802.2:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001198963.2:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351496.2:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351497.2:c.368G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351498.2:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351499.2:c.41G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351500.2:c.41G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351501.2:c.41G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351502.2:c.41G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006731.2:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_147213.2:n.652G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147214.2:n.560G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002633012	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 23, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002633012

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 23, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002633012.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.R146Q variant (also known as c.437G>A), located in coding exon 4 of the FKTN gene, results from a G to A substitution at nucleotide position 437. The arginine at codon 146 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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