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NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) AND Walker-Warburg congenital muscular dystrophy

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 29, 2024
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:
RCV000472307.8

Allele description

NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)

Gene:
FKTN:fukutin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
HGVS:
  • NC_000009.12:g.105604487dup
  • NG_008754.1:g.51358dup
  • NM_001079802.2:c.642dupMANE SELECT
  • NM_001198963.2:c.642dup
  • NM_001351496.2:c.642dup
  • NM_001351497.2:c.573dup
  • NM_001351498.2:c.642dup
  • NM_001351499.2:c.246dup
  • NM_001351500.2:c.246dup
  • NM_001351501.2:c.246dup
  • NM_001351502.2:c.246dup
  • NM_006731.2:c.642dup
  • NP_001073270.1:p.Asp215Ter
  • NP_001073270.1:p.Asp215Ter
  • NP_001185892.1:p.Asp215Ter
  • NP_001338425.1:p.Asp215Ter
  • NP_001338426.1:p.Asp192Ter
  • NP_001338427.1:p.Asp215Ter
  • NP_001338428.1:p.Asp83Ter
  • NP_001338429.1:p.Asp83Ter
  • NP_001338430.1:p.Asp83Ter
  • NP_001338431.1:p.Asp83Ter
  • NP_006722.2:p.Asp215Ter
  • LRG_434t1:c.642dup
  • LRG_434t2:c.642dup
  • LRG_434:g.51358dup
  • LRG_434p1:p.Asp215Ter
  • LRG_434p2:p.Asp215Ter
  • NC_000009.11:g.108366764_108366765insT
  • NC_000009.11:g.108366768dup
  • NM_001079802.1:c.642dup
  • NM_001079802.1:c.642dupT
  • NM_006731.2:c.642dupT
  • NR_147213.2:n.857dup
  • NR_147214.2:n.765dup
Protein change:
D192*
Links:
dbSNP: rs398123557
NCBI 1000 Genomes Browser:
rs398123557
Molecular consequence:
  • NR_147213.2:n.857dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147214.2:n.765dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001079802.2:c.642dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001198963.2:c.642dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351496.2:c.642dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351497.2:c.573dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351498.2:c.642dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351499.2:c.246dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351500.2:c.246dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351501.2:c.246dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351502.2:c.246dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006731.2:c.642dup - 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
SCV000546097Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 29, 2024) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV002079589Natera, Inc.
no assertion criteria provided
Pathogenic
(May 27, 2020) 		germlineclinical testing

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

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, Dobyns WB, Walsh CA.

Hum Mutat. 2008 Nov;29(11):E231-41. doi: 10.1002/humu.20844.

PubMed [citation]
PMID:
18752264
PMCID:
PMC2577713
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV000546097.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.Asp215*) 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 (rs766898395, gnomAD 0.1%). This premature translational stop signal has been observed in individual(s) with Walker-Warburg syndrome (PMID: 17878207, 22958903). ClinVar contains an entry for this variant (Variation ID: 93523). For these reasons, this variant has been classified as Pathogenic.

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

From Natera, Inc., SCV002079589.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024