NM_001079802.2(FKTN):c.436dup (p.Arg146fs) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 25, 2022
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:: RCV002310020.2

Allele description [Variation Report for NM_001079802.2(FKTN):c.436dup (p.Arg146fs)]

NM_001079802.2(FKTN):c.436dup (p.Arg146fs)

Gene:

FKTN:fukutin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

9q31.2

Genomic location:

Preferred name:

NM_001079802.2(FKTN):c.436dup (p.Arg146fs)

HGVS:

NC_000009.12:g.105604281dup
NG_008754.1:g.51152dup
NM_001079802.2:c.436dupMANE SELECT
NM_001198963.2:c.436dup
NM_001351496.2:c.436dup
NM_001351497.2:c.367dup
NM_001351498.2:c.436dup
NM_001351499.2:c.40dup
NM_001351500.2:c.40dup
NM_001351501.2:c.40dup
NM_001351502.2:c.40dup
NM_006731.2:c.436dup
NP_001073270.1:p.Arg146Profs
NP_001073270.1:p.Arg146fs
NP_001185892.1:p.Arg146fs
NP_001338425.1:p.Arg146fs
NP_001338426.1:p.Arg123fs
NP_001338427.1:p.Arg146fs
NP_001338428.1:p.Arg14fs
NP_001338429.1:p.Arg14fs
NP_001338430.1:p.Arg14fs
NP_001338431.1:p.Arg14fs
NP_006722.2:p.Arg146fs
LRG_434t1:c.436dup
LRG_434t2:c.436dup
LRG_434:g.51152dup
LRG_434p1:p.Arg146Profs
LRG_434p2:p.Arg146fs
NC_000009.11:g.108366562dup
NM_001079802.1:c.436dup
NR_147213.2:n.651dup
NR_147214.2:n.559dup

Protein change:

R123fs

Molecular consequence:

NM_001079802.2:c.436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001198963.2:c.436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351496.2:c.436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351497.2:c.367dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351498.2:c.436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351499.2:c.40dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351500.2:c.40dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351501.2:c.40dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351502.2:c.40dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006731.2:c.436dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_147213.2:n.651dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147214.2:n.559dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4)
Synonyms:: Fukuyama type muscular dystrophy; Muscular dystrophy, congenital progressive, with mental retardation; Muscular dystrophy, congenital, with central nervous system involvement; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009678; MedGen: C0410174; Orphanet: 588; Orphanet: 899; OMIM: 253800

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2M
Synonyms:: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
Identifiers:: MONDO: MONDO:0012699; MedGen: C1969040; Orphanet: 206554; OMIM: 611588

Name:: Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 (MDDGB4)
Synonyms:: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4
Identifiers:: MONDO: MONDO:0013156; MedGen: C2751052; OMIM: 613152

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002604270	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Feb 25, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002604270

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Feb 25, 2022)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002604270.2

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

Description

NM_001079802.1(FKTN):c.436dupC(R146Pfs*12) is expected to be pathogenic in the context of FKTN-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in FKTN, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

#	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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