CFTR-NGS catalogue

*CFTR*-NGS Variant details:
Name	NM_000492.4:c.1265C>T
Protein name	NP_000483.3:p.(Ser422Phe)
Genomic name (hg19)	chr7:g.117188750C>T UCSC gnomAD
#Exon/intron	exon 10
Legacy Name	S422F
Type in CFTR-NGS catalogue	artefact
*Class in CFTR-France*	not reported
WT sequence	CAAAACAATAACAATAGAAAAACTT C TAATGGTGATGACAGCCTCTTCTTC
Mutant sequence	CAAAACAATAACAATAGAAAAACTT T TAATGGTGATGACAGCCTCTTCTTC

Additional information:
MAF (GnomAD)	5.45e-02
Splicing prediction (SpliceAI)	AG: 0.00 (16) AL: 0.00 (-34) DG: 0.00 (-2) DL: 0.00 (5)

External sources:
Not found	Not found	dbSNP rs201880593

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

Pathogenicity predictions:
AGVGD	MAPP	SIFT	PPH2
		0.53	0.675
no class	no class	VUS1	VUS4

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

No patient found in CFTR-France

Details of NGS patients:
ID	Phenotype	Laboratory	Experiment	Variant status	Variant filter	Quality score	Depth of coverage
MUCO07300	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	236	114
9004	Asymptomatic	Montpellier	40216_varilh	heterozygous	PASS	2270	647
9881	Asymptomatic	Montpellier	160218_varilh	heterozygous	LowVariantFreq	274	1234
T2	Asymptomatic	Montpellier	160218_varilh	heterozygous	LowVariantFreq	1275	530
9878	Asymptomatic	Montpellier	160218_varilh	heterozygous	PASS	3292	1322
MUCO07621	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	1543	221
MUCO07407	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	469	87
MUCO07318	Asymptomatic	Montpellier	100714_varilh	heterozygous	PASS	319	138
9877	CF	Montpellier	160218_varilh	heterozygous	LowVariantFreq	1438	1249
9078	CF	Montpellier	160218_varilh	heterozygous	LowVariantFreq	1515	934
9879	CF	Montpellier	160218_varilh	heterozygous	PASS	2644	694
9880	CF	Montpellier	160218_varilh	heterozygous	LowVariantFreq	333	837
5	CFTR-RD	Montpellier	150517_varilh	heterozygous	LowVariantFreq	1426	662
5914	CFTR-RD	Montpellier	40216_varilh	heterozygous	PASS	2077	579
3641	CFTR-RD	Montpellier	40216_varilh	heterozygous	PASS	2006	612
3357	CFTR-RD	Montpellier	40216_varilh	heterozygous	PASS	655	381
6	Pending (NBS)	Montpellier	150517_varilh	heterozygous	PASS	1655	497
11	Pending (NBS)	Montpellier	150517_varilh	heterozygous	LowVariantFreq	1480	680
8988	Suspicion of CF	Montpellier	40216_varilh	heterozygous	PASS	1817	535
8892	Suspicion of CF	Montpellier	40216_varilh	heterozygous	PASS	822	266
cad200370	Suspicion of CF	Montpellier	151220_Altieri	heterozygous	LowVariantFreq	89	113

Go to