NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 30, 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:: RCV002309308.2

Allele description [Variation Report for NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)]

NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)

Gene:

FKTN:fukutin [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

9q31.2

Genomic location:

Preferred name:

NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)

HGVS:

NC_000009.12:g.105607916_105607917delinsT
NG_008754.1:g.54787_54788delinsT
NM_001079802.2:c.745_746delinsTMANE SELECT
NM_001198963.2:c.745_746delinsT
NM_001351496.2:c.745_746delinsT
NM_001351497.2:c.676_677delinsT
NM_001351498.2:c.745_746delinsT
NM_001351499.2:c.349_350delinsT
NM_001351500.2:c.349_350delinsT
NM_001351501.2:c.349_350delinsT
NM_001351502.2:c.349_350delinsT
NM_006731.2:c.745_746delinsT
NP_001073270.1:p.Glu249Cysfs
NP_001073270.1:p.Glu249fs
NP_001185892.1:p.Glu249fs
NP_001338425.1:p.Glu249fs
NP_001338426.1:p.Glu226fs
NP_001338427.1:p.Glu249fs
NP_001338428.1:p.Glu117fs
NP_001338429.1:p.Glu117fs
NP_001338430.1:p.Glu117fs
NP_001338431.1:p.Glu117fs
NP_006722.2:p.Glu249fs
LRG_434t1:c.745_746delGAinsT
LRG_434t2:c.745_746delinsT
LRG_434:g.54787_54788delinsT
LRG_434p1:p.Glu249Cysfs
LRG_434p2:p.Glu249fs
NC_000009.11:g.108370197_108370198delinsT
NM_001079802.1:c.745_746delGAinsT
NR_147213.2:n.960_961delinsT
NR_147214.2:n.868_869delinsT

Protein change:

E117fs

Molecular consequence:

NM_001079802.2:c.745_746delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001198963.2:c.745_746delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351496.2:c.745_746delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351497.2:c.676_677delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351498.2:c.745_746delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351499.2:c.349_350delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351500.2:c.349_350delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351501.2:c.349_350delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351502.2:c.349_350delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006731.2:c.745_746delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
NR_147213.2:n.960_961delinsT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147214.2:n.868_869delinsT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
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
SCV002603119	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Mar 30, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002603119

Myriad Genetics, Inc.

criteria provided, single submitter

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

Likely pathogenic
(Mar 30, 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., SCV002603119.2

#	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.745_746delGAinsT(E249Cfs*35) 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: Aug 5, 2023

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