FSHR S680N - 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:

FSHR S680N

(FSHR Ser680Asn)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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 @ chr2:49189921: 55.6% (5977/10758) in EVS
  • T @ chr2:49043424: 58.1% (72/124) in GET-Evidence
  • Frequency shown in summary reports: 55.6% (5977/10758)

Publications
 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr2:49189921

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr2:49189921

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom T @ chr2:49189921

 

 

 

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr2:49189921

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr2:49189921

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom T @ chr2:49189921

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr2:49189921

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr2:49189921

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom T @ chr2:49189921

 

 

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr2:49043425

 

GS06994 - var-GS06994-1100-36-ASM
hom T @ chr2:49043425

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr2:49043425

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr2:49043425

 

GS12004 - var-GS12004-1100-36-ASM
hom T @ chr2:49043425

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr2:49043425

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr2:49043425

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr2:49043425

 

GS18505 - var-GS18505-1100-36-ASM
hom T @ chr2:49043425

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr2:49043425

 

GS18526 - var-GS18526-1100-36-ASM
hom T @ chr2:49043425

 

GS18537 - var-GS18537-1100-36-ASM
hom T @ chr2:49043425

 

GS18555 - var-GS18555-1100-36-ASM
hom T @ chr2:49043425

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr2:49043425

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr2:49043425

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr2:49043425

 

GS18947 - var-GS18947-1100-36-ASM
hom T @ chr2:49043425

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chr2:49043425

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr2:49043425

 

GS19020 - var-GS19020-1100-36-ASM
hom T @ chr2:49043425

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr2:49043425

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr2:49043425

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr2:49043425

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr2:49043425

 

GS19240 - var-GS19240-1100-36-ASM
hom T @ chr2:49043425

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr2:49043425

 

GS19669 - var-GS19669-1100-36-ASM
hom T @ chr2:49043425

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chr2:49043425

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr2:49043425

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr2:49043425

 

GS20502 - var-GS20502-1100-36-ASM
hom T @ chr2:49043425

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr2:49043425

 

NA12878

 

Other external references
 

    dbSNP
  • rs6166
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (22 hits -- see all)
  • Authors' Response: FSH Receptor Polymorphism and Iatrogenic ...
    Allele and genotype frequencies for S680N polymorphism were similar in OHSS ... on the association of the FSHr S680N polymorphism and OHSS, it is necessary ...
    jcem.endojournals.org/cgi/content/full/90/8/4978-a
  • Prediction of Severity of Symptoms in Iatrogenic Ovarian ...
    FSHr are usually not stimulated or are only very weakly stimulated ... coding polymorphisms of the FSHr (A307T and S680N) (16) could be associated with the development of ...
    jcem.endojournals.org/cgi/content/full/89/12/6310
  • AceView: Gene:FSHR, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=FSHR
  • Costagliola, S (Sabine)
    Costagliola, S (Sabine) :: Lysine 183 and glutamic acid 157 of the TSH receptor: two interacting residues with a key role in determining specificity toward TSH and ...
    lib.bioinfo.pl/auid:53186
  • Ovarielles Hyperstimulationssyndrom (OHSS)
    FSHR-T307A/-S680N bei V.a. OHSS, humangenetisches Gutachten ... Aus einer Blutprobe wird genomische DNA isoliert und ein Abschnitt des FSHR-Gens amplifiziert. ...
    www.medizinische-genetik.de/index.php?id=2285
  • Neue Erkenntnisse bei Diagnostik und Therapie des OHSS ...
    S680N. S680N Prädiktior für. Schweregrad des. OHSS. aber nicht das Auftre- ten der Erkrankung ... FSHR Ser680 Asn bezieht sich auf den basalen FSH- Spiegel ...
    www.br-bayern.de/Nuernberg-07/Mai.pdf
  • A k k r e d i t i e r t n
    233300 FSH-Rezeptordefizienz (FSHR) 277180 Congenitale bilaterale Aplasie des V. deferens, ... 608115 Ovarielles Hyperstimulationssyndrom, OHS (FSHR-S680N) ...
    medizinische-genetik.de/fileadmin/.../molekular.pdf
  • S680N substitution of the follicle-stimulating hormone ...
    OBJECTIVE: To determine the influence of the A307/S680 and T307/N680 isoforms of the follicle-stimulating hormone receptor (FSHR) gene on the incidence of spontaneous ...
    www.medscape.com/medline/abstract/11485893
  • Prediction of severity of symptoms in iatrogenic ovarian ...
    ... FSHr gene encompassing the A307T and S680N polymorphisms of exon 10 ... The FSHr allele frequencies in the Caucasian control population were identical to what has already been ...
    tripdatabase.com/doc/412690-Prediction-of-severity-of-sym...
  • BiomedExperts: Prediction of severity of symptoms in ...
    'Prediction of severity of symptoms in iatrogenic ovarian hyperstimulation syndrome by follicle-stimulating hormone receptor Ser680Asn polymorphism.' on ...
    biomedexperts.com/Abstract.bme/15579795/...

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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