CASR A986S - GET-Evidence

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

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Curation:
Currentness:

CASR A986S

(CASR Ala986Ser)


Short summary

Associated with higher serum level of calcium.

Variant evidence
Computational 1

PolyPhen: Benign, score 0.021
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 99.13; Class C65
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.26);
PolyPhen=benign(0.021);
Condel=neutral(0.389)
Mutation Tasting Prediction: Polymorphism, P value: 0. 775721; protein features (might be) affected (aa 863-1078 TOPO_DOM Cytoplasmic (potential) gets lost)

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated benign

(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

  • T @ chr3:122003757: 10.9% (1173/10758) in EVS
  • T @ chr3:123486446: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 10.9% (1173/10758)

Publications
 

Bácsi K, Hitre E, Kósa JP, Horváth H, Lazáry A, Lakatos PL, Balla B, Budai B, Lakatos P, Speer G. Effects of the lactase 13910 C/T and calcium-sensor receptor A986S G/T gene polymorphisms on the incidence and recurrence of colorectal cancer in Hungarian population. BMC Cancer. 2008 Nov 3;8:317. doi: 10.1186/1471-2407-8-317. PubMed PMID: 18980667; PubMed Central PMCID: PMC2636834.

 

Laaksonen MM, Outila TA, Karkkainen MU, Kemi VE, Rita HJ, Perola M, Valsta LM, Lamberg-Allardt CJ. Associations of vitamin D receptor, calcium-sensing receptor and parathyroid hormone gene polymorphisms with calcium homeostasis and peripheral bone density in adult Finns. J Nutrigenet Nutrigenomics. 2009;2(2):55-63. doi: 10.1159/000204960. Epub 2009 Feb 27. PubMed PMID: 19690432.

 

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PubMed PMID: 20602573

 

He Y, Han L, Li W, Shu X, Zhao C, He Y, Bi M, Li Y, Sun C. Effects of the calcium-sensing receptor A986S polymorphism on serum calcium and parathyroid hormone levels in healthy individuals: a meta-analysis. Gene. 2012 Jan 10;491(2):110-5. doi: 10.1016/j.gene.2011.10.017. Epub 2011 Oct 15. PubMed PMID: 22024717.

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr3:122003757

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr3:122003757

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr3:122003757

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr3:122003757

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr3:122003757

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr3:122003757

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr3:122003757

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr3:122003757

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr3:122003757

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr3:122003757

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr3:122003757

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr3:122003757

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr3:123486447

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr3:123486447

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr3:123486447

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr3:123486447

 

Other external references
 

    dbSNP
  • rs1801725
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CASR gene
    Autosomal Dominant Hypocalcemia
    CASR-Associated Familial Isolated Hypoparathyroidism
    CASR-Related Disorders
    CASR-Related Familial Isolated Hypoparathyroidism
    Familial Hypocalciuric Hypercalcemia, Type I
    Familial Isolated Hypoparathyroidism
    Neonatal Severe Primary Hyperparathyroidism
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CASR
    PolyPhen-2
  • Score: 0.003 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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