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

Clinical significance:Benign (Last evaluated: Jun 18, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000252649.1

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]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000317560Ambry Geneticscriteria provided, single submitter
Benign
(Jun 18, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000317560.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 4, 2021

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