AKAP10 I646V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

AKAP10 I646V

(AKAP10 Ile646Val)


Short summary

Susceptibility to cardiac conduction defect

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • C @ chr17:19812541: 45.2% (4863/10758) in EVS
  • C @ chr17:19753132: 42.9% (54/126) in GET-Evidence
  • Frequency shown in summary reports: 45.2% (4863/10758)

Publications
 

Łoniewska B, Adler G, Gumprecht J, Grzeszczak W, Kaczmarczyk M, Bińczak-Kuleta A, Ciechanowicz A, Clark JS. 1936A→G (I646 V) polymorphism in the AKAP10 gene encoding A-kinase-anchoring protein 10 in very long-lived poles is similar to that in newborns. Exp Aging Res. 2012;38(5):584-92. doi: 10.1080/0361073X.2012.726177. PubMed PMID: 23092224.

 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr17:19812541

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr17:19812541

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr17:19812541

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr17:19812541

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr17:19812541

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr17:19812541

 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr17:19812541

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom C @ chr17:19812541

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr17:19812541

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr17:19812541

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr17:19812541

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr17:19812541

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr17:19812541

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom C @ chr17:19812541

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr17:19812541

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr17:19812541

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr17:19812541

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr17:19812541

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr17:19812541

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr17:19812541

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr17:19812541

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr17:19753133

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr17:19753133

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr17:19753133

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr17:19753133

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr17:19753133

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr17:19753133

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr17:19753133

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr17:19753133

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr17:19753133

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr17:19753133

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr17:19753133

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr17:19753133

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr17:19753133

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr17:19753133

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chr17:19753133

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr17:19753133

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr17:19753133

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr17:19753133

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr17:19753133

 

GS19701 - var-GS19701-1100-36-ASM
hom C @ chr17:19753133

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr17:19753133

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr17:19753133

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr17:19753133

 

GS19834 - var-GS19834-1100-36-ASM
hom C @ chr17:19753133

 

NA12878

 

Other external references
 

    dbSNP
  • rs203462
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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