NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 17, 2020
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:: RCV001820816.4

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)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002071527	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 17, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002071527

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 17, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV002071527.1

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

Description

DNA sequence analysis of the FKTN gene demonstrated a sequence change, c.437G>A, in exon 6 that results in an amino acid change, p.Arg146Gln. This sequence change does not appear to have been previously described in patients with FKTN-related disorders and has been described in the gnomAD database with a low frequency of 0.04% in the Finnish sub-population (dbSNP rs143748939). The p.Arg146Gln change affects a highly conserved amino acid residue located in a domain of the FKTN protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Arg146Gln substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Arg146Gln change remains unknown at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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