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NM_001079802.2(FKTN):c.489C>G (p.Ile163Met) AND Walker-Warburg congenital muscular dystrophy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 27, 2017
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:
RCV000634054.7

Allele description [Variation Report for NM_001079802.2(FKTN):c.489C>G (p.Ile163Met)]

NM_001079802.2(FKTN):c.489C>G (p.Ile163Met)

Gene:
FKTN:fukutin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_001079802.2(FKTN):c.489C>G (p.Ile163Met)
HGVS:
  • NC_000009.12:g.105604334C>G
  • NG_008754.1:g.51205C>G
  • NM_001079802.2:c.489C>GMANE SELECT
  • NM_001198963.2:c.489C>G
  • NM_001351496.2:c.489C>G
  • NM_001351497.2:c.420C>G
  • NM_001351498.2:c.489C>G
  • NM_001351499.2:c.93C>G
  • NM_001351500.2:c.93C>G
  • NM_001351501.2:c.93C>G
  • NM_001351502.2:c.93C>G
  • NM_006731.2:c.489C>G
  • NP_001073270.1:p.Ile163Met
  • NP_001073270.1:p.Ile163Met
  • NP_001185892.1:p.Ile163Met
  • NP_001338425.1:p.Ile163Met
  • NP_001338426.1:p.Ile140Met
  • NP_001338427.1:p.Ile163Met
  • NP_001338428.1:p.Ile31Met
  • NP_001338429.1:p.Ile31Met
  • NP_001338430.1:p.Ile31Met
  • NP_001338431.1:p.Ile31Met
  • NP_006722.2:p.Ile163Met
  • LRG_434t1:c.489C>G
  • LRG_434t2:c.489C>G
  • LRG_434:g.51205C>G
  • LRG_434p1:p.Ile163Met
  • LRG_434p2:p.Ile163Met
  • NC_000009.11:g.108366615C>G
  • NM_001079802.1:c.489C>G
  • NR_147213.2:n.704C>G
  • NR_147214.2:n.612C>G
Protein change:
I140M
Links:
dbSNP: rs980208971
NCBI 1000 Genomes Browser:
rs980208971
Molecular consequence:
  • NM_001079802.2:c.489C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001198963.2:c.489C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351496.2:c.489C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351497.2:c.420C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351498.2:c.489C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351499.2:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351500.2:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351501.2:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351502.2:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006731.2:c.489C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147213.2:n.704C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147214.2:n.612C>G - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000755332Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 27, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000755332.4

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FKTN-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with methionine at codon 163 of the FKTN protein (p.Ile163Met). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and methionine.

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

Last Updated: Sep 29, 2024