RNASEL D541E - GET-Evidence

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

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(RNASEL Asp541Glu)

Short summary


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


Insufficiently evaluated not reviewed

(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

  • C @ chr1:182551337: 47.5% (5108/10758) in EVS
  • C @ chr1:180817959: 43.0% (55/128) in GET-Evidence
  • Frequency shown in summary reports: 47.5% (5108/10758)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom C @ chr1:182551337


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr1:182551337


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr1:182551337


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr1:182551337



hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom C @ chr1:182551337


hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr1:182551337


hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr1:182551337


hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom C @ chr1:182551337



hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr1:182551337


hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr1:182551337


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr1:182551337


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr1:182551337



hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom C @ chr1:182551337


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr1:182551337


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom C @ chr1:182551337


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr1:182551337


hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr1:182551337


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr1:182551337



huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom C @ chr1:182551337


huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr1:182551337


huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom C @ chr1:182551337


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr1:182551337


huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr1:182551337


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom C @ chr1:182551337


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr1:182551337


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr1:182551337


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr1:182551337


GS06985 - var-GS06985-1100-36-ASM
hom C @ chr1:180817960


GS06994 - var-GS06994-1100-36-ASM
hom C @ chr1:180817960


GS07357 - var-GS07357-1100-36-ASM
het C @ chr1:180817960


GS12004 - var-GS12004-1100-36-ASM
het C @ chr1:180817960


GS18508 - var-GS18508-1100-36-ASM
het C @ chr1:180817960


GS18526 - var-GS18526-1100-36-ASM
hom C @ chr1:180817960


GS18537 - var-GS18537-1100-36-ASM
hom C @ chr1:180817960


GS18555 - var-GS18555-1100-36-ASM
hom C @ chr1:180817960


GS18558 - var-GS18558-1100-36-ASM
het C @ chr1:180817960


GS18940 - var-GS18940-1100-36-ASM
hom C @ chr1:180817960


GS18956 - var-GS18956-1100-36-ASM
het C @ chr1:180817960


GS19020 - var-GS19020-1100-36-ASM
het C @ chr1:180817960


GS19129 - var-GS19129-1100-36-ASM
het C @ chr1:180817960


GS19239 - var-GS19239-1100-36-ASM
het C @ chr1:180817960


GS19240 - var-GS19240-1100-36-ASM
het C @ chr1:180817960


GS19649 - var-GS19649-1100-36-ASM
het C @ chr1:180817960


GS19700 - var-GS19700-1100-36-ASM
het C @ chr1:180817960


GS19703 - var-GS19703-1100-36-ASM
het C @ chr1:180817960


GS19704 - var-GS19704-1100-36-ASM
het C @ chr1:180817960


GS19735 - var-GS19735-1100-36-ASM
het C @ chr1:180817960


GS19834 - var-GS19834-1100-36-ASM
het C @ chr1:180817960


GS20502 - var-GS20502-1100-36-ASM
het C @ chr1:180817960


GS20509 - var-GS20509-1100-36-ASM
het C @ chr1:180817960


Other external references

  • rs627928
  • Score: 0 (benign)
    Web search results (95 hits -- see all)
  • DNA variation in MSR1, RNASEL and E-cadherin genes and ...
    DNA variation in MSR1, RNASEL and E-cadherin genes and prostate cancer in Poland. ... DNA variants (R462Q and D541E in RNASEL, R293X and P275A in MSR1, ...
  • Mutation screening and association study of RNASEL as a ...
    Mutation screening and association study of RNASEL as a prostate cancer susceptibility gene ... of polymorphisms (I97L, R462Q and D541E) was observed, neither in case–control ...
    Mutations in RNASEL segregate with the disease in prostate. cancer families and specific ... D541E, R462Q and E265X concluded that the genotype E541. increased the ...
  • Genetics of Prostate Cancer - National Cancer Institute
    Expert-reviewed information summary about the genetics of prostate ... data on the RNASEL variants E265X, R462Q and D541E. Only the D541E allele was associated ...
  • Germline Alterations of the RNASEL Gene, a Candidate HPC1 ...
    Here, we screened for RNASEL germline mutations in 66 Finnish ... G59S, S406F, R462Q, and D541E—and two silent base. substitutions. Of these, S406F was not ...
  • PLoS ONE: Germline Mutation in RNASEL Predicts Increased Risk ...
    PLoS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF SCIENCE. Reports of well-performed scientific studies from ...
  • Effects of RNase L Mutations Associated with Prostate Cancer ...
    The RNASEL gene, a strong candidate for the hereditary prostate cancer 1 allele ... The RNASEL/HPC1 connection suggests a novel role for the regulated RNase as a ...
  • r.d.mittal - Publications List
    RESULTS: For RNASEL, we identified 8 variants (7 novel and 1 previously published, D541E), including 4 exonic, 3 intronic, and 1 change in the 3'-noncoding region. ...
  • Mills-Peninsula Medical Group
    Deleterious germline RNASEL mutations were detected in two out of eight families ... that contained data on the RNASEL variants E265X, R462Q and D541E. ...
  • Genetics of Prostate Cancer: Genetics - Health Professional ...
    Deleterious germline RNASEL mutations were detected in two out of eight families ... that contained data on the RNASEL variants E265X, R462Q and D541E. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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