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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 18, 2016
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:
RCV000490403.1

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:
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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267316Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 18, 2016) 		germlinereference population

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown1not providednot providednot providednot providedreference population

Citations

PubMed

Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.

Kobayashi K, Sasaki J, Kondo-Iida E, Fukuda Y, Kinoshita M, Sunada Y, Nakamura Y, Toda T.

FEBS Lett. 2001 Feb 2;489(2-3):192-6.

PubMed [citation]
PMID:
11165248

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.

de Bernabé DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG.

J Med Genet. 2003 Nov;40(11):845-8. No abstract available.

PubMed [citation]
PMID:
14627679
PMCID:
PMC1735302
See all PubMed Citations (3)

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267316.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024