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PMID: 12394352
Richards CS, Bradley LA, Amos J, Allitto B, Grody WW, Maddalena A, McGinnis MJ, Prior TW, Popovich BW, Watson MS, Palomaki GE
Standards and guidelines for CFTR mutation testing.
Genet Med. 2002 Sep-Oct;4(5):379-91.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
50
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12394352:50:210
status:
NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 12394352:50:239
status:
NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12394352:50:232
status:
NEW
view ABCC7 p.Gly542* details
Depending upon the ethnic group, these mutation frequencies may be difficult to obtain (Table 1).5-7 CF 2.8.1 The most common mutations in the Ashkenazi Jewish population have been described.8-10 These include
W1282X
, ⌬F508,
G542X
,
N1303K
, and 3849 ϩ 10 kbCϾT.
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51
ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 12394352:51:166
status:
NEW
view ABCC7 p.Ser549Arg details
ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 12394352:51:122
status:
NEW
view ABCC7 p.Asp1152His details
ABCC7 p.Trp1089*
X
ABCC7 p.Trp1089* 12394352:51:154
status:
NEW
view ABCC7 p.Trp1089* details
A recent report by Orgad et al.11 indicated that additional mutations were found in Jewish Israeli populations, including
D1152H
, 405 ϩ 1GϾA,
W1089X
, and
S549R
.
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52
ABCC7 p.Gly480Cys
X
ABCC7 p.Gly480Cys 12394352:52:165
status:
NEW
view ABCC7 p.Gly480Cys details
ABCC7 p.Gly330*
X
ABCC7 p.Gly330* 12394352:52:130
status:
NEW
view ABCC7 p.Gly330* details
ABCC7 p.Ala559Thr
X
ABCC7 p.Ala559Thr 12394352:52:123
status:
NEW
view ABCC7 p.Ala559Thr details
CF 2.8.2 Mutations specific for the African-American population have been described12 and include 3120 ϩ 1GϾA,
A559T
,
G330X
, 2307insA, ⌬F311, and
G480C
.
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57
ABCC7 p.Asp1270Asn
X
ABCC7 p.Asp1270Asn 12394352:57:114
status:
NEW
view ABCC7 p.Asp1270Asn details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 12394352:57:134
status:
NEW
view ABCC7 p.Ser549Asn details
ABCC7 p.Trp1089*
X
ABCC7 p.Trp1089* 12394352:57:122
status:
NEW
view ABCC7 p.Trp1089* details
Mutations not included in the 25 mutation core testing panel that have been reported in these populations include
D1270N
,
W1089X
, and
S549N
.13-15 CF 2.8.4 Insufficient information is available for the Asian American population.
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60
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:60:35
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 12394352:60:71
status:
NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 12394352:60:113
status:
NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 12394352:60:103
status:
NEW
view ABCC7 p.Gly85Glu details
Examples of such mutations include
R117H
, 3849 ϩ 10 kbCϾT,
A455E
, 2789 ϩ 5GϾA,
G85E
, and
R334W
.
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87
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:87:13
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 12394352:87:23
status:
NEW
view ABCC7 p.Ile148Thr details
For example,
R117H
and
I148T
mutations may produce a more variable clinical phenotype, depending upon genetic modifiers, some of which may not be well defined.
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181
ABCC7 p.Phe508Cys
X
ABCC7 p.Phe508Cys 12394352:181:129
status:
NEW
view ABCC7 p.Phe508Cys details
It is critical that laboratories include known variants in the mutation panel to prevent mistyping of compound genotypes such as
F508C
/⌬F508.
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217
ABCC7 p.Phe508Cys
X
ABCC7 p.Phe508Cys 12394352:217:113
status:
NEW
view ABCC7 p.Phe508Cys details
ABCC7 p.Phe508Cys
X
ABCC7 p.Phe508Cys 12394352:217:205
status:
NEW
view ABCC7 p.Phe508Cys details
As for ASO typing, it is critical to include frequent polymorphisms in the coding region of the CFTR gene, e.g.,
F508C
, to prevent mistypings of polymorphism/mutant compound heterozygous genotypes such as
F508C
/⌬F508.
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218
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:218:124
status:
NEW
view ABCC7 p.Arg117His details
As described below, it is desirable to determine the 5/7/9T genotype only for diagnostic cases or carriers positive for the
R117H
mutation.
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307
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12394352:307:76
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:307:117
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:307:315
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:307:420
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:307:513
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:307:551
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:307:810
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 12394352:307:139
status:
NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12394352:307:82
status:
NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 12394352:307:13
status:
NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 12394352:307:156
status:
NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 12394352:307:162
status:
NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 12394352:307:89
status:
NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12394352:307:70
status:
NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 12394352:307:19
status:
NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 12394352:307:276
status:
NEW
view ABCC7 p.Ile148Thr details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 12394352:307:151
status:
NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 12394352:307:145
status:
NEW
view ABCC7 p.Arg560Thr details
⌬F508
R553X
R1162X
2184delA 3120ϩ1GϾA ⌬I507
G542X
G551D
W1282X
N1303K
621ϩ1GϾT
R117H
1717-1GϾA
A455E
R560T
G85E
R334W
R347P
711ϩ1GϾT 1898ϩ1GϾA 1078delT 3849ϩ10kbCϾT 2789ϩ5GϾA 3659delC
I148T
CF 3.3.2 Inclusion of the common
R117H
mutation in the test panel screens for CBAVD as well as for CF: The phenotypic consequences of the
R117H
mutation are modulated in cis by the 5/7/9T polypyrimidine tract in intron 8 such that
R117H
/7T is associated with CBAVD and
R117H
/5T is associated with CF.34 Moreover, the 5T allele is associated as a trans mutation in CBAVD.35 It is recommended that the 5/7/9T variant be excluded from the routine carrier screen but tested as a reflex for carriers shown to be heterozygous for the
R117H
mutation.
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308
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:308:92
status:
NEW
view ABCC7 p.Arg117His details
The 5/7/9T variant should be included for diagnostic panels to distinguish the genotypes of
R117H
associated with CF from those associated with CBAVD and as a potential pathogenic mutation for CBAVD.
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311
ABCC7 p.Phe508Cys
X
ABCC7 p.Phe508Cys 12394352:311:24
status:
NEW
view ABCC7 p.Phe508Cys details
For example, I506 V and
F508C
are performed as reflex tests for ⌬F508 positives unless it is proven that these variants do not cause assay interference.
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342
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:342:50
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:342:109
status:
NEW
view ABCC7 p.Arg117His details
CF 3.5.2 Comments on phenotype issues with CBAVD,
R117H
and 5T, 7T background: ACMG has recommended that all
R117H
positive results require reflex testing for the 5T/7T/9T variant in the polythymidine tract at intron 8 in CFTR gene.
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343
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:343:83
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:343:186
status:
NEW
view ABCC7 p.Arg117His details
Refer to model reports for carrier screening presented in the ACMG statement.1 For
R117H
/5T positive heterozygotes, testing of parents is recommended to determine the inheritance of the
R117H
and the 5T variant (i.e., cis vs. trans position).
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344
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:344:7
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:344:158
status:
NEW
view ABCC7 p.Arg117His details
If the
R117H
and 5T variant are determined to be in cis, then the report should reflect that this mutation has been associated with a variable phenotype when
R117H
/5T (cis) or another CFTR mutation is present in patients with CF.
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345
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:345:7
status:
NEW
view ABCC7 p.Arg117His details
If the
R117H
mutation and 5T are determined to be in trans, the report should indicate that the individual carries a relatively benign CF mutation that is not generally associated with the phenotype of typical CF patients but has been associated with CBAVD, leading to infertility in males and no known clinical features in females.
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348
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:348:24
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:348:92
status:
NEW
view ABCC7 p.Arg117His details
For individuals who are
R117H
positive and 5T negative, the report should indicate that the
R117H
mutation is not expected to lead to a typical CF clinical phenotype.
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349
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12394352:349:9
status:
NEW
view ABCC7 p.Arg117His details
However,
R117H
has been associated with CBAVD.
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