NM_004517.3(ILK):c.785C>T (p.Ala262Val) AND Variant of unknown significance

Clinical significance:Uncertain significance (Last evaluated: Jul 31, 2007)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000043520.3

Allele description [Variation Report for NM_004517.3(ILK):c.785C>T (p.Ala262Val)]

NM_004517.3(ILK):c.785C>T (p.Ala262Val)

Gene:
ILK:integrin linked kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_004517.3(ILK):c.785C>T (p.Ala262Val)
HGVS:
  • NC_000011.10:g.6609568C>T
  • NG_029702.1:g.10836C>T
  • NM_004517.3:c.785C>T
  • NP_004508.1:p.Ala262Val
  • LRG_444:g.10836C>T
  • LRG_444p1:p.Ala262Val
  • NC_000011.9:g.6630799C>T
  • NM_004517.2:c.785C>T
  • Q13418:p.Ala262Val
Protein change:
A262V; ALA262VAL
Links:
UniProtKB: Q13418#VAR_069753; OMIM: 602366.0001; dbSNP: 387907366
NCBI 1000 Genomes Browser:
rs387907366
Molecular consequence:
  • NM_004517.3:c.785C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Variant of unknown significance
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000067390OMIMno assertion criteria providedUncertain significance
(Jul 31, 2007)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells.

Knöll R, Postel R, Wang J, Krätzner R, Hennecke G, Vacaru AM, Vakeel P, Schubert C, Murthy K, Rana BK, Kube D, Knöll G, Schäfer K, Hayashi T, Holm T, Kimura A, Schork N, Toliat MR, Nürnberg P, Schultheiss HP, Schaper W, Schaper J, et al.

Circulation. 2007 Jul 31;116(5):515-25. Epub 2007 Jul 23.

PubMed [citation]
PMID:
17646580

Details of each submission

From OMIM, SCV000067390.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

This variant is classified as a variant of unknown significance because its contribution to dilated cardiomyopathy (see 115200) has not been confirmed.

In a Caucasian man with severe dilated cardiomyopathy who had been diagnosed at 54 years of age and had an ejection fraction of only 25%, Knoll et al. (2007) identified heterozygosity for a 785C-T transition in the ILK gene, resulting in an ala262-to-val (A262V) substitution at a highly conserved residue in a proline-rich region of the ILK kinase domain. In vitro kinase assay revealed a 63% reduction in kinase activity for the A262V variant compared to wildtype. Immunohistochemistry on a myocardial biopsy sample from the patient showed a significant loss of endothelial cells.

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

Last Updated: May 7, 2017