Candidate loci with insufficient evidence: folate-sensitive fragile sites + NOTCH2NLC

[hdashnow]

The following loci are present as candidates in https://github.com/broadinstitute/str-analysis/tree/main/str_analysis/variant_catalogs but don't currently have sufficient evidence of a Mendelian disease association. I'm documenting them here with notes from @laurelhiatt for posterity, and so that we can come back to them if new studies are published.

chr10 93702516 93702546 ID=FRA10AC1;MOTIFS=CCA,CCG;STRUC=(CCA)n(CCG)n
Folate-sensitive fragile site: Pretty sparse evidence imo, the repeat is implicated in a 2004 and since then it has been nonsense variants associated with phenotypes
chr11 66744819 66744843 ID=C11ORF80;MOTIFS=GGC;STRUC=(GGC)n
folate-sensitive fragile site: similar to above; sparse
chrX 149631723 149631780 ID=TMEM185A;MOTIFS=CGCCGT,CGC;STRUC=(CGCCGT)n(CGC)n
folate-sensitive fragile site: similar to above; sparse
chr1 146228800 146228821 ID=NOTCH2NLA;MOTIFS=GCC;STRUC=(GCC)n
related to NOTCH2NLC chr1:149390803-149390842, not finding in the literature

[bw2]

I included these (and a handful of other loci) without putting a disease association in the catalog since they appeared in misc. lists of putative pathogenic loci (with Adotto being the latest).