NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser) AND Long QT syndrome 11

Clinical significance:Benign

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:
RCV000606154.1

Allele description [Variation Report for NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser)]

NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser)

Gene:
AKAP9:A-kinase anchoring protein 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser)
Other names:
p.N2792S:AAT>AGT
HGVS:
  • NC_000007.14:g.92083384A>G
  • NG_011623.1:g.147510A>G
  • NM_001379277.1:c.3020A>G
  • NM_005751.5:c.8375A>GMANE SELECT
  • NM_147185.3:c.8351A>G
  • NP_001366206.1:p.Asn1007Ser
  • NP_005742.4:p.Asn2792Ser
  • NP_005742.4:p.Asn2792Ser
  • NP_671714.1:p.Asn2784Ser
  • LRG_331t1:c.8375A>G
  • LRG_331:g.147510A>G
  • LRG_331p1:p.Asn2792Ser
  • NC_000007.13:g.91712698A>G
  • NM_005751.4:c.8375A>G
Protein change:
N1007S
Links:
dbSNP: rs6960867
NCBI 1000 Genomes Browser:
rs6960867
Molecular consequence:
  • NM_001379277.1:c.3020A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005751.5:c.8375A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147185.3:c.8351A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome 11 (LQT11)
Identifiers:
MONDO: MONDO:0012738; MedGen: C2678483; Orphanet: 101016; Orphanet: 768; OMIM: 611820

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000734580Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000734580.1

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

Last Updated: Dec 4, 2021

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