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NM_001079802.2(FKTN):c.557A>G (p.His186Arg) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 2, 2021
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:
RCV004026112.1

Allele description [Variation Report for NM_001079802.2(FKTN):c.557A>G (p.His186Arg)]

NM_001079802.2(FKTN):c.557A>G (p.His186Arg)

Gene:
FKTN:fukutin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_001079802.2(FKTN):c.557A>G (p.His186Arg)
HGVS:
  • NC_000009.12:g.105604402A>G
  • NG_008754.1:g.51273A>G
  • NM_001079802.2:c.557A>GMANE SELECT
  • NM_001198963.2:c.557A>G
  • NM_001351496.2:c.557A>G
  • NM_001351497.2:c.488A>G
  • NM_001351498.2:c.557A>G
  • NM_001351499.2:c.161A>G
  • NM_001351500.2:c.161A>G
  • NM_001351501.2:c.161A>G
  • NM_001351502.2:c.161A>G
  • NM_006731.2:c.557A>G
  • NP_001073270.1:p.His186Arg
  • NP_001073270.1:p.His186Arg
  • NP_001185892.1:p.His186Arg
  • NP_001338425.1:p.His186Arg
  • NP_001338426.1:p.His163Arg
  • NP_001338427.1:p.His186Arg
  • NP_001338428.1:p.His54Arg
  • NP_001338429.1:p.His54Arg
  • NP_001338430.1:p.His54Arg
  • NP_001338431.1:p.His54Arg
  • NP_006722.2:p.His186Arg
  • LRG_434t1:c.557A>G
  • LRG_434t2:c.557A>G
  • LRG_434:g.51273A>G
  • LRG_434p1:p.His186Arg
  • LRG_434p2:p.His186Arg
  • NC_000009.11:g.108366683A>G
  • NM_001079802.1:c.557A>G
  • NR_147213.2:n.772A>G
  • NR_147214.2:n.680A>G
Protein change:
H163R
Links:
dbSNP: rs1448279636
NCBI 1000 Genomes Browser:
rs1448279636
Molecular consequence:
  • NM_001079802.2:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001198963.2:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351496.2:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351497.2:c.488A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351498.2:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351499.2:c.161A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351500.2:c.161A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351501.2:c.161A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351502.2:c.161A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006731.2:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147213.2:n.772A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147214.2:n.680A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003559176Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 2, 2021) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

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

Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.

Tachikawa M, Kanagawa M, Yu CC, Kobayashi K, Toda T.

J Biol Chem. 2012 Mar 9;287(11):8398-406. doi: 10.1074/jbc.M111.300905. Epub 2012 Jan 24.

PubMed [citation]
PMID:
22275357
PMCID:
PMC3318729

Details of each submission

From Ambry Genetics, SCV003559176.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The c.557A>G (p.H186R) alteration is located in exon 6 (coding exon 4) of the FKTN gene. This alteration results from a A to G substitution at nucleotide position 557, causing the histidine (H) at amino acid position 186 to be replaced by an arginine (R). This alteration was reported in the homozygous state in a patient diagnosed with classic Walker-Warburg syndrome (Manzini, 2008). Functional studies show that this alteration may affect folding and cellular localization of fukutin protein (Tachikawa, 2012). The p.H186R alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024