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

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000261848.2

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_005751.4:c.8375A>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
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_005751.4:c.8375A>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:
Congenital long QT syndrome (RWS)
Synonyms:
Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Identifiers:
MONDO: MONDO:0019171; MedGen: C1141890; Orphanet: 768; OMIM: PS192500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000470305Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000470305.2

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

Last Updated: Nov 27, 2021

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