CFTR-NGS catalogue

Home
DNA
- All
- Substitution
- Deletion
- Insertion
- Duplication
- Indel
- Large alteration
- Repeat
- Intronic variant
- Complex allele
Contact
Contributors
- Login
- Logout

CFTR-NGS variants catalogue

Variant hg19:chr7:117188797A/G

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1312A>G
Protein name	NP_000483.3:p.(Thr438Ala)
Genomic name (hg19)	chr7:g.117188797A>G UCSC gnomAD
#Exon/intron	exon 10
Legacy Name	T438A
Type in CFTR-NGS catalogue	artefact
*Class in CFTR-France*	not reported
WT sequence	CTTCAGTAATTTCTCACTTCTTGGT A CTCCTGTCCTGAAAGATATTAATTT
Mutant sequence	CTTCAGTAATTTCTCACTTCTTGGT G CTCCTGTCCTGAAAGATATTAATTT

Additional information:
MAF (GnomAD)	5.44e-02
Splicing prediction (SpliceAI)	AG: 0.00 (-31) AL: 0.00 (34) DG: 0.00 (-31) DL: 0.00 (-3)

External sources:
Not found	Not found	dbSNP rs201434579

Variant validation:
Sanger (present/not present/not verified)	Minigene (effect/no effect/not performed)
not present	not performed

Pathogenicity predictions:
AGVGD	MAPP	SIFT	PPH2
		0.27	0
no class	no class	VUS1	VUS1

Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing

No patient found in CFTR-France

13 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:
TOTAL NUMBER OF INDIVIDUALS	13
Asymptomatic	7
CF	2
Pending (NBS)	2
Suspicion of CF	2

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
MUCO07300	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	211	102
MUCO07318	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	289	129
MUCO07407	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	208	93
MUCO07621	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	1393	172
9881	Asymptomatic	Montpellier	160218_varilh	heterozygous	LowVariantFreq	514	1048
9004	Asymptomatic	Montpellier	40216_varilh	heterozygous	PASS	1192	511
9878	Asymptomatic	Montpellier	160218_varilh	heterozygous	LowVariantFreq	2368	1155
9880	CF	Montpellier	160218_varilh	heterozygous	LowVariantFreq	351	765
9877	CF	Montpellier	160218_varilh	heterozygous	LowVariantFreq	1469	1092
6	Pending (NBS)	Montpellier	150517_varilh	heterozygous	PASS	795	421
11	Pending (NBS)	Montpellier	150517_varilh	heterozygous	LowVariantFreq	1004	594
8892	Suspicion of CF	Montpellier	40216_varilh	heterozygous	PASS	519	210
cad200370	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	LowVariantFreq	34	173

Go to

CFTRare