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. Author manuscript; available in PMC: 2015 Mar 5.
Published in final edited form as: Clin Chem. 2013 Nov 8;60(2):341–352. doi: 10.1373/clinchem.2013.210658

Table 1.

Phase 1 results submitted by 17 sites.a

Variant Transcript Site (n = 17)
1 2 3 4 5 6b 7 8 9 10 11 12 13 14 15 16 17
 Unequivocal
  BRCA2 c.9501+3A>T Full length + + + + + + NAc + + + + + + + + + +
Δ25d + + + + + + + + + + + + + + + +
  BRCA2 c.8632+1G>A Full length + + + + + + + + + + + + + + + + +
Δ20d + + + - + + + + + + + + + - + + -
Δ19&20d - - - - + + - - - - - - - - - + -
ins i20 + + - + + + - - - + - - - - - - -
  BRCA1 c.135–1G>T Full length + + + + + + NA + + + + + + + + + +
Δ5 + + + + + + + + + + + + + + + +
Δ5q - + - - - + - - + - - - - - - -
Δ3 - + - - - - - - - - - - - - - -
  BRCA1 c.5467+5G>C Full length + + + + + + NA + + + + + + + + + +
Δ23d + + + + + + + + + + + + + + + -
 Equivocal
  BRCA2 c.7988A>T Full length + + + + + + NA + + + + + + + + + +
Δ18 + + + + + + + + + + + + + + + -
Δ17&18 + + - - - + + + + - + + - - + +
  BRCA2 c.426-12_8delGTTTT Full length + + + + + + + + + + + + + + + + +
Δ6q,7 + + - - + - - - - - - - - - - - -
Δ3,5d - + - - - + - - - - - - - - - - -
Δ3,4,5d - + - - - - - - - - - - - - - - -
ins 18bpd - - - - - - - - - - - - - + - - -
Δ4,5,6,7d - - - - - - + - - - - - - - - - -
Δ5 + + + + + + - + + + + + + + + + -
Δ5,6,7d - - - - + - - - - - - - - - - - -
Δ6,7d - - - - - - - - - - - - + - - - -
  BRCA1 c.591C>T Full length + + + + + + NA + + + + + NA + + + +
Δ8&9 - - - - + - - - - - - - - - -
Δ8,9,10 - - - - + - - - - - - - - - +
Δ9 - + + + - + + - + + - + - + -
Δ9,10 + + + - - + + + + - + - + + +
Δ9,10,11q + + - - - - - - + - - - - + -
Δ11q + - - - - - - - + - - - - + -
Δ9,11qd + + - - - - - - + - - - - + -
Δ10d - - - - - - + - - - - - - - -
  BRCA1 c.594-2A>C Full length + + + + + + - + + + + + + + + + NA
Δ9 - + - - - + - - - + - - - - + -
Δ9,10 + + + + + + + + + - - - + - +
Δ9,10,11q + + - - - - - - - + - - - - - +
Δ9,10,11 + - - - - - - - - - - - - - - -
Δ11q + + - - - - - - - + - - - - - +
Ins 21bpd Intron 9d + - - - - - - - - - - - - - - -
Δ9,11qd - + - - - - - - - + - - - - - +
Δ10,11qd - + - - - - - - - + - - - - - +
Δ10d + + + + + + + + + + + + + - + +
  BRCA1 .671-2A>G Full length + + + - - + - + NA + - - + + - + NA
Δ9,11d - + - - - - - - - - - - - - -
Δ10,11d + + + - - - - + + + + - - + +
Δ11&12d - - - - - - - - - - - - - - -
Δ∼3.2 kb exon 11d + - + - - - - + - + - - - - -
Δ9,10,11,12d - - - - - - - - - - - - - - +
Δ9 - + - - + - - - + - - - - - -
Δ9,10 + + - - - - - + + - - - + - +
Δ9,10,11 + + - - + - - + + - - - - + +
Δ9,10,11q + + - - - - + + + - - - - - -
Δ11 + + + + + + - + + + - + - + +
Δ11q - + - + + + - + + + - + - - -
a

+, Detection of the transcript; –, no detection.

b

Site 6 reported Δ1q and Δ5,1q (BRCA1 c.135-1G>T) and Δ3 (BRCA2 c.426-12_8delGTTTT) following a review of the data after results were initially compiled. HGVS (Human Genome Variation Society) nomenclature descriptions are available in online Supplemental Table 3. The Δ6,7 transcript identified in the analysis of BRCA2 c.426-12_8delGTTTT is not sequence confirmed, and it is possible that this transcript is actually Δ6q,7, which differs by only 2 bp. Additional minor and uncharacterized peaks were detected by some sites but have not been included in the table. For example, site 17 also reported Δ8p and Δ14p splice slipping events.

c

NA, not assessed.

d

Transcripts detected in the variant carrier only. Other transcripts were identified in at least 1 control.