NM_005751.5(AKAP9):c.5108del (p.Lys1703fs) AND Long QT syndrome

Clinical significance:Likely pathogenic (Last evaluated: Dec 21, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001280934.1

Allele description [Variation Report for NM_005751.5(AKAP9):c.5108del (p.Lys1703fs)]

NM_005751.5(AKAP9):c.5108del (p.Lys1703fs)

Gene:
AKAP9:A-kinase anchoring protein 9 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_005751.5(AKAP9):c.5108del (p.Lys1703fs)
HGVS:
  • NC_000007.14:g.92042717del
  • NG_011623.1:g.106843del
  • NM_005751.5:c.5108delMANE SELECT
  • NM_147185.3:c.5108del
  • NP_005742.4:p.Lys1703fs
  • NP_671714.1:p.Lys1703fs
  • LRG_331t1:c.5108del
  • LRG_331:g.106843del
  • NC_000007.13:g.91672031del
  • NM_005751.4:c.5108delA
Protein change:
K1703fs
Molecular consequence:
  • NM_005751.5:c.5108del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_147185.3:c.5108del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Long QT syndrome (LQTS)
Identifiers:
MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976; OMIM: PS192500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001468280Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely pathogenic
(Dec 21, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001468280.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: AKAP9 c.5108delA (p.Lys1703ArgfsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251114 control chromosomes (gnomAD). To our knowledge, no occurrence of c.5108delA in individuals affected with Long QT Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: Jun 14, 2021

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