FAM58A Q15Shift - 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:

FAM58A Q15Shift

(FAM58A 15delQinsShift)


Short summary

Although a frameshift allele of this gene would be expected to produce STAR syndrome (OMIM 300707), the many PGP individuals homozygous or hemizygous for a frameshift allele of FAM58A suggests an error in the reference assembly.

Variant evidence
Computational -
Functional -
Case/Control 5

Found in 27 PGP genomes as homozygous, strongly supporting a nonpathogenic effect.

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

  • None available.

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom C @ chrX:152864478

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom C @ chrX:152864478

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom C @ chrX:152864478

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom C @ chrX:152864478

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom C @ chrX:152864478

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom C @ chrX:152864478

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
hom C @ chrX:152864478

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom C @ chrX:152864478

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom C @ chrX:152864478

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom C @ chrX:152864478

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom C @ chrX:152864478

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom C @ chrX:152864478

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom C @ chrX:152864478

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom C @ chrX:152864478

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom C @ chrX:152864478

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom C @ chrX:152864478

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom C @ chrX:152864478

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom C @ chrX:152864478

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom C @ chrX:152864478

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom C @ chrX:152864478

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom C @ chrX:152864478

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom C @ chrX:152864478

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom C @ chrX:152864478

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom C @ chrX:152864478

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom C @ chrX:152864478

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom C @ chrX:152864478

 

Other external references
 

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in