NM_000492.4(CFTR):c.1340del (p.Lys447fs) AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 19, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001001369.8

Allele description [Variation Report for NM_000492.4(CFTR):c.1340del (p.Lys447fs)]

NM_000492.4(CFTR):c.1340del (p.Lys447fs)

Genes:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
CFTR-AS1:CFTR antisense RNA 1 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.1340del (p.Lys447fs)

Other names:

1471delA

HGVS:

NC_000007.13:g.117188824del
NC_000007.14:g.117548771del
NG_016465.4:g.87988del
NM_000492.4:c.1340delMANE SELECT
NP_000483.3:p.Lys447fs
LRG_663:g.87988del
NC_000007.13:g.117188824del
NC_000007.13:g.117188825del
NC_000007.13:g.117188825delA
NM_000492.3:c.1340delA
p.Lys447ArgfsX2

Protein change:

K447fs

Links:

dbSNP: rs397508192

NCBI 1000 Genomes Browser:

rs397508192

Molecular consequence:

NM_000492.4:c.1340del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001158567	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Pathogenic (Jun 19, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001158567

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Pathogenic
(Jun 19, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158567.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The CFTR c.1340delA; p.Lys447fs variant (rs397508192) is reported in the literature in multiple individuals affected with cystic fibrosis (Mott 2009, CFTR2 database). At least one affected individual with this variant was observed to carry a second pathogenic CFTR variant (Mott 2009). This variant is found on a single chromosome (1/242968 alleles) in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: CFTR2 database: https://cftr2.org Mott LS et al. Bronchiectasis in an asymptomatic infant with cystic fibrosis diagnosed following newborn screening. J Cyst Fibros. 2009 Jul;8(4):285-7.

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

Last Updated: Sep 29, 2024

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