NM_001079802.2(FKTN):c.516C>G (p.His172Gln) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 30, 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:: RCV004041886.1

Allele description [Variation Report for NM_001079802.2(FKTN):c.516C>G (p.His172Gln)]

NM_001079802.2(FKTN):c.516C>G (p.His172Gln)

Gene:

FKTN:fukutin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.2

Genomic location:

Preferred name:

NM_001079802.2(FKTN):c.516C>G (p.His172Gln)

HGVS:

NC_000009.12:g.105604361C>G
NG_008754.1:g.51232C>G
NM_001079802.1:c.516C>G
NM_001079802.2:c.516C>GMANE SELECT
NM_001198963.2:c.516C>G
NM_001351496.2:c.516C>G
NM_001351497.2:c.447C>G
NM_001351498.2:c.516C>G
NM_001351499.2:c.120C>G
NM_001351500.2:c.120C>G
NM_001351501.2:c.120C>G
NM_001351502.2:c.120C>G
NM_006731.2:c.516C>G
NP_001073270.1:p.His172Gln
NP_001185892.1:p.His172Gln
NP_001338425.1:p.His172Gln
NP_001338426.1:p.His149Gln
NP_001338427.1:p.His172Gln
NP_001338428.1:p.His40Gln
NP_001338429.1:p.His40Gln
NP_001338430.1:p.His40Gln
NP_001338431.1:p.His40Gln
NP_006722.2:p.His172Gln
LRG_434t1:c.516C>G
LRG_434t2:c.516C>G
LRG_434:g.51232C>G
LRG_434p2:p.His172Gln
NC_000009.11:g.108366642C>G
NR_147213.2:n.731C>G
NR_147214.2:n.639C>G

Protein change:

H149Q

Links:

dbSNP: rs1436386821

NCBI 1000 Genomes Browser:

rs1436386821

Molecular consequence:

NM_001079802.2:c.516C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001198963.2:c.516C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351496.2:c.516C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351497.2:c.447C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351498.2:c.516C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351499.2:c.120C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351500.2:c.120C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351501.2:c.120C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351502.2:c.120C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006731.2:c.516C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_147213.2:n.731C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147214.2:n.639C>G - 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
SCV005037424	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 30, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005037424

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 30, 2023)

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, SCV005037424.1

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

Description

The p.H172Q variant (also known as c.516C>G), located in coding exon 4 of the FKTN gene, results from a C to G substitution at nucleotide position 516. The histidine at codon 172 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

#	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: Sep 29, 2024

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