NM_001079802.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs) AND Walker-Warburg congenital muscular dystrophy

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 11, 2018
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:: RCV000686455.3

Allele description

NM_001079802.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs)

Gene:

FKTN:fukutin [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

9q31.2

Genomic location:

Preferred name:

NM_001079802.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs)

HGVS:

NC_000009.12:g.105604248_105604249insGCCTAAATCT
NG_008754.1:g.51119_51120insGCCTAAATCT
NM_001079802.2:c.403_404insGCCTAAATCTMANE SELECT
NM_001198963.2:c.403_404insGCCTAAATCT
NM_001351496.2:c.403_404insGCCTAAATCT
NM_001351497.2:c.334_335insGCCTAAATCT
NM_001351498.2:c.403_404insGCCTAAATCT
NM_001351499.2:c.7_8insGCCTAAATCT
NM_001351500.2:c.7_8insGCCTAAATCT
NM_001351501.2:c.7_8insGCCTAAATCT
NM_001351502.2:c.7_8insGCCTAAATCT
NM_006731.2:c.403_404insGCCTAAATCT
NP_001073270.1:p.Phe135fs
NP_001073270.1:p.Phe135fs
NP_001185892.1:p.Phe135fs
NP_001338425.1:p.Phe135fs
NP_001338426.1:p.Phe112fs
NP_001338427.1:p.Phe135fs
NP_001338428.1:p.Phe3fs
NP_001338429.1:p.Phe3fs
NP_001338430.1:p.Phe3fs
NP_001338431.1:p.Phe3fs
NP_006722.2:p.Phe135fs
LRG_434t1:c.403_404insGCCTAAATCT
LRG_434t2:c.403_404insGCCTAAATCT
LRG_434:g.51119_51120insGCCTAAATCT
LRG_434p1:p.Phe135fs
LRG_434p2:p.Phe135fs
NC_000009.11:g.108366528_108366529insTGCCTAAATC
NC_000009.11:g.108366529_108366530insGCCTAAATCT
NM_001079802.1:c.403_404insGCCTAAATCT
NR_147213.2:n.618_619insGCCTAAATCT
NR_147214.2:n.526_527insGCCTAAATCT

Protein change:

F112fs

Links:

dbSNP: rs1564290459

NCBI 1000 Genomes Browser:

rs1564290459

Molecular consequence:

NM_001079802.2:c.403_404insGCCTAAATCT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001198963.2:c.403_404insGCCTAAATCT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351496.2:c.403_404insGCCTAAATCT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351497.2:c.334_335insGCCTAAATCT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351498.2:c.403_404insGCCTAAATCT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351499.2:c.7_8insGCCTAAATCT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351500.2:c.7_8insGCCTAAATCT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351501.2:c.7_8insGCCTAAATCT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351502.2:c.7_8insGCCTAAATCT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006731.2:c.403_404insGCCTAAATCT - frameshift variant - [Sequence Ontology: SO:0001589]
NR_147213.2:n.618_619insGCCTAAATCT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147214.2:n.526_527insGCCTAAATCT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Walker-Warburg congenital muscular dystrophy
Synonyms:: Muscular dystrophy-dystroglycanopathy, type A; Walker-Warburg syndrome
Identifiers:: MONDO: MONDO:0000171; MedGen: C0265221; Orphanet: 899; OMIM: PS236670

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000813974	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Apr 11, 2018)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 17044012, 17878207, 18752264, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000813974

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Apr 11, 2018)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Citations

PubMed

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.

Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S, Muntoni F.

Ann Neurol. 2006 Nov;60(5):603-610. doi: 10.1002/ana.21006.

PubMed [citation]

PMID:: 17044012

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F.

Brain. 2007 Oct;130(Pt 10):2725-35. Epub 2007 Sep 18.

PubMed [citation]

PMID:: 17878207

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV000813974.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Phe135Alafs*2) in the FKTN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FKTN-related disease. Loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264). For these reasons, this variant has been classified as Pathogenic.

#	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: Mar 30, 2024

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