Skip to main content

Table 3 ATM variants found in familial breast cancer cases.

From: Association of common ATMvariants with familial breast cancer in a South American population

Intron/exon Variant HUGO (1) nomenclature rsID (2) Effect Heterozygous frecuency Heterozygous frecuency dbSNP database Described by
4 IVS4+36insAA c.72+36insAA rs2066734 Unknown 46,0% 41.9% (3) [20]
6 378T>A c.378T>A rs2234997 p.D126E 0,8% 8.7% (4) [22]
17 IVS17-56G>A c.2377-56G>A rs672655 Unknown 46,8% 43.6% (3) [20]
24 IVS24-9delT c.3249-9delT rs3218698 Unknown 20,6% 13,3% (5) [20]
25 IVS25-12insA c.3366-12insA rs4987984 Unknown 49,2% 48.2% (3) [22]
38 IVS38-15G>C c.5320-15G>C rs3092828 Unknown 0,8% 1.0% (6) [22]
38 IVS38-8T>C c.5320-8T>C rs3092829 Unknown 8,7% 4,5% (4) [20]
38 5557G>A c.5557G>A rs1801516 p.D1853N 20,6% 10,3% (5) [20]
47 IVS47-65G>C c.6516-65G>C rs4988104 Unknown 1,7% 2.4% (7) -
48 IVS48-69insATT c.6751-69insATT rs3212322 Unknown 49,2% 43.2% (3) [21]
  1. (1) HUGO: Human Genome Organization.
  2. (2) rs numbers are from human single nucleotide polimorphisms database (dbSNP) http://www.ncbi.nlm.nih.gov/SNP
  3. (3) Estimated frequency in NCBI:NIHPDR sample (90 individuals from North American population). http://www.ncbi.nlm.nih.gov/SNP/snp_ss.cgi?ss=ss4479871.
  4. (4) Estimated frequency in SNP500CANCER:HISP1 sample (23 individuals from Hispanic population). http://www.ncbi.nlm.nih.gov/SNP/snp_viewTable.cgi?pop=777.
  5. (5) Estimated frequency in NIHPDR sample (450 unselected for ethnicity) http://www.ncbi.nlm.nih.gov/SNP/snp_viewTable.cgi?pop=506.
  6. (6) Estimated frequency in OEFNER:autosome sample (97 individual unselected for ethnicity). http://www.ncbi.nlm.nih.gov/SNP/snp_viewTable.cgi?pop=527.
  7. (7) Estimated frequency in EGP_SNPS:PDR90 sample (90 individual unselected for ethnicity). http://www.ncbi.nlm.nih.gov/SNP/snp_viewTable.cgi?pop=693.