NM_000492.3(CFTR):c.4086_4087insT (p.Lys1363Terfs) AND Cystic fibrosis

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
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:: RCV000047069.3

Allele description

NM_000492.3(CFTR):c.4086_4087insT (p.Lys1363Terfs)

Gene:

CFTR:cystic fibrosis transmembrane conductance regulator [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.3(CFTR):c.4086_4087insT (p.Lys1363Terfs)

Other names:

4218insT

HGVS:

NC_000007.14:g.117664810dupT
NG_016465.3:g.204027_204028insT
NM_000492.3:c.4086_4087insT
NP_000483.3:p.Lys1363Terfs
NC_000007.13:g.117304864dupT
p.Lys1363X

Links:

dbSNP: rs397508669

NCBI 1000 Genomes Browser:

rs397508669

Molecular consequence:

NM_000492.3:c.4086_4087insT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cystic fibrosis (CF)
Identifiers:: MedGen: C0010674; Orphanet: 586; OMIM: 219700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000075082	Invitae,	no classification provided	not provided	germline	literature only	Citation Link,
SCV000245974	CFTR2 - CFTR2	reviewed by expert panel (Submitter's publication)	Pathogenic	germline	research	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000075082

Invitae,

no classification provided

not provided

germline

literature only

Citation Link,

SCV000245974

CFTR2 - CFTR2

reviewed by expert panel

(Submitter's publication)

Pathogenic

germline

research

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

Citation Link

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

Details of each submission

From Invitae,, SCV000075082.2

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

#	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 CFTR2 - CFTR2, SCV000245974.1

#	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

Last Updated: Dec 7, 2017

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