CASR A986S - GET-Evidence

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

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(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 ):
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 -


Insufficiently evaluated benign

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

Inheritance pattern


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)


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PubMed PMID: 18980667


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


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PubMed PMID: 22024717



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

  • rs1801725
  • 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
  • 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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