BCMO1 R267S - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

BCMO1 R267S

(BCMO1 Arg267Ser)


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 @ chr16:81301694: 35.6% (3832/10758) in EVS
  • T @ chr16:79859194: 21.1% (27/128) in GET-Evidence
  • Frequency shown in summary reports: 35.6% (3832/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom T @ chr16:81301694

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom T @ chr16:81301694

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr16:81301694

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr16:81301694

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom T @ chr16:81301694

 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr16:81301694

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr16:81301694

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom T @ chr16:81301694

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom T @ chr16:81301694

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr16:81301694

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr16:81301694

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr16:81301694

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr16:81301694

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr16:81301694

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom T @ chr16:81301694

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr16:81301694

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr16:81301694

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr16:81301694

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr16:81301694

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr16:81301694

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr16:81301694

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr16:81301694

 

GS06985 - var-GS06985-1100-36-ASM
hom T @ chr16:79859195

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr16:79859195

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr16:79859195

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr16:79859195

 

GS18526 - var-GS18526-1100-36-ASM
hom T @ chr16:79859195

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr16:79859195

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr16:79859195

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr16:79859195

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr16:79859195

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr16:79859195

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr16:79859195

 

Other external references
 

    dbSNP
  • rs12934922
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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