NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter) AND Cystic fibrosis

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 17, 2017
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000576362.11

Allele description [Variation Report for NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter)]

NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter)

Gene:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter)

HGVS:

NC_000007.14:g.117614680G>A
NG_016465.4:g.153897G>A
NM_000492.4:c.3435G>AMANE SELECT
NP_000483.3:p.Trp1145Ter
NP_000483.3:p.Trp1145Ter
LRG_663t1:c.3435G>A
LRG_663:g.153897G>A
LRG_663p1:p.Trp1145Ter
NC_000007.13:g.117254734G>A
NM_000492.3:c.3435G>A
p.Trp1145X

Protein change:

W1145*

Links:

dbSNP: rs397508561

NCBI 1000 Genomes Browser:

rs397508561

Molecular consequence:

NM_000492.4:c.3435G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Cystic fibrosis (CF)
Synonyms:: Mucoviscidosis
Identifiers:: MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000677624	CFTR2 - CFTR2	reviewed by expert panel (Sosnay PR et al. (Nat Genet 2013))	Pathogenic (Mar 17, 2017)	germline	research	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV000679439	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000677624

CFTR2 - CFTR2

reviewed by expert panel

(Sosnay PR et al. (Nat Genet 2013))

Pathogenic
(Mar 17, 2017)

germline

research

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV000679439

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no classification provided

not provided

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research, literature only

Citations

PubMed

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR.

Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25.

PubMed [citation]

PMID:: 23974870
PMCID:: PMC3874936

A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.

Seia M, Cantù-Rajnoldi A, Ambrosioni A, Fiori S, Bassotti A, Pizzamiglio G, Giunta A, Padoan R.

Hum Mutat. 2000 Dec;16(6):532-3. No abstract available.

PubMed [citation]

PMID:: 11102992

Details of each submission

From CFTR2 - CFTR2, SCV000677624.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000679439.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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