NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) AND Dilated cardiomyopathy 1X

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 28, 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:: RCV001594387.4

Allele description [Variation Report for NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)]

NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)

Gene:

FKTN:fukutin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.2

Genomic location:

Preferred name:

NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)

HGVS:

NC_000009.12:g.105604452C>T
NG_008754.1:g.51323C>T
NM_001079802.2:c.607C>TMANE SELECT
NM_001198963.2:c.607C>T
NM_001351496.2:c.607C>T
NM_001351497.2:c.538C>T
NM_001351498.2:c.607C>T
NM_001351499.2:c.211C>T
NM_001351500.2:c.211C>T
NM_001351501.2:c.211C>T
NM_001351502.2:c.211C>T
NM_006731.2:c.607C>T
NP_001073270.1:p.Arg203Ter
NP_001073270.1:p.Arg203Ter
NP_001185892.1:p.Arg203Ter
NP_001338425.1:p.Arg203Ter
NP_001338426.1:p.Arg180Ter
NP_001338427.1:p.Arg203Ter
NP_001338428.1:p.Arg71Ter
NP_001338429.1:p.Arg71Ter
NP_001338430.1:p.Arg71Ter
NP_001338431.1:p.Arg71Ter
NP_006722.2:p.Arg203Ter
LRG_434t1:c.607C>T
LRG_434t2:c.607C>T
LRG_434:g.51323C>T
LRG_434p1:p.Arg203Ter
LRG_434p2:p.Arg203Ter
NC_000009.11:g.108366733C>T
NM_001079802.1:c.607C>T
NM_001079802.2:c.607C>T
NM_001351497.1:c.538C>T
NR_147213.2:n.822C>T
NR_147214.2:n.730C>T

Protein change:

R180*

Links:

dbSNP: rs746763506

NCBI 1000 Genomes Browser:

rs746763506

Molecular consequence:

NR_147213.2:n.822C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147214.2:n.730C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001079802.2:c.607C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001198963.2:c.607C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001351496.2:c.607C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001351497.2:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001351498.2:c.607C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001351499.2:c.211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001351500.2:c.211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001351501.2:c.211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001351502.2:c.211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_006731.2:c.607C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Dilated cardiomyopathy 1X (CMD1X)
Synonyms:: CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS; FKTN-Related Dilated Cardiomyopathy
Identifiers:: MONDO: MONDO:0012704; MedGen: C1969024; Orphanet: 154; OMIM: 611615

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001499958	KTest Genetics, KTest	no assertion criteria provided (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004199739	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 28, 2024)	unknown	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

SCV001499958

KTest Genetics, KTest

no assertion criteria provided

(ACMG Guidelines, 2015)

Pathogenic

germline

clinical testing

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

SCV004199739

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 28, 2024)

unknown

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	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 KTest Genetics, KTest, SCV001499958.1

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

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

From Baylor Genetics, SCV004199739.2

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

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

Last Updated: Oct 8, 2024

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