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NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) AND Walker-Warburg congenital muscular dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 6, 2023
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:
RCV000234557.8

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:
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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000285819Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 6, 2023) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000285819.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This sequence change creates a premature translational stop signal (p.Arg203*) in the FKTN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264). This variant is present in population databases (rs746763506, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with FKTN-related disease (PMID: 11165248, 20961758, 26809617). ClinVar contains an entry for this variant (Variation ID: 225359). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024