Table 4.

ACMG Recommended Mutations found in the CF DNA DBS Repository Samples as Characterized by Next-Generation Sequencing and Mutation Analysis.

Mutation (Legacy Name)	Mutation (HGVS)	Sanger	AmpliSeq CFTR Community Panel	Accel- Amplicon CFTR Panel	CF 139- Variant Assay	InPlex CF 40+4	xTAG CF39v2 kit	xTAG CF60v2 kit	TaqMan SNP Genotyping
F508del	c.1521_1523delCTT	+	+	+	+	+	+	+	+
I507del	c.1519_1521delATC	+	+	+	+	+	+	+	+
G542X	c.1624G>T	+	+	+	+	+	+	+	+
G85E	c.254G>A	+	+	+	+	+	+	+	+
R117H	c.350G>A	+	+	+	+	+	+	+	+
621 + 1G>T	c.489+ 1G>T	+	+	+	+	+	+	+	+
711 + 1G->T	c.579+ 1G>T	+	+	+	+	+	+	+	+
R334W	c.1000C>T	+	+	+	+	+	+	+	+
R347P	c.1040G>C	+	+	+	+	+	+	+	+
A455E	c.1364C>A	+	+	+	+	+	+	+	+
1717–1G>A	c.1585+ 1G>A	+	+	+	+	+	+	+	+
R560T	c.1679G>C	+	+	+	+	+	+	+	+
R553X	c.1657C>T	+	+	+	+	+	+	+	+
G551D	c.1652G>A	+	+	+	+	+	+	+	+
1898+ 1G>A	c.1766+ 1G>A	+	+	+	+	+	+	+	+
2184delA	c.2052delA	+	+*	+	+	+	+	+	+
2789+5G>A	c.2657 + 5G>A	+	+	+	+	+	+	+	+
3120+ 1G>A	c.2988+ 1G>A	+	+	+	+	+	+	+	+
R1162X	c.3484C>T	+	+	+	+	+	+	+	+
3659delC	c.3528delC	+	+	+	+	+	+	+	+
3849+ 10kbC>T	c.3717+ 12191C>T	+	+	+	+	+	+	+	+
W1282X	c.3846G>A	+	+	+	+	+	+	+	+
N1303K	c.3909C>G	+	+	+	+	+	+	+	+
F508C	c.1523T>G	+	+	+	nr	+	nr	nr	+
T5	c.1210–12[5]	+	+	+	CR	+	CR	CR	+
T7	c.1210–12[7]	+	ND	+	CR	+	CR	CR	+
T9	c.1210–12[9]	+	ND	+	CR	+	CR	CR	+

Abbreviations: ACMG, American College of Medical Genetics; CF, cystic fibrosis; CFTR, CF transmembrane regulator; CR, conditionally reported with an R117H present; ND, not distinguishable; nr, not reported but used for correct mutation interpretation; SNP, single-nucleotide polymorphism;

+, mutations detected;

+*, not assayed in this study but detectable by method.

^aBoldface entries indicates ACMG mutations.