NM_000492.4(CFTR):c.340_342del (p.Lys114del) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 28, 2023
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:: RCV003479143.1

Allele description [Variation Report for NM_000492.4(CFTR):c.340_342del (p.Lys114del)]

NM_000492.4(CFTR):c.340_342del (p.Lys114del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.340_342del (p.Lys114del)

HGVS:

NC_000007.14:g.117530965_117530967del
NG_016465.4:g.70182_70184del
NM_000492.4:c.340_342delMANE SELECT
NP_000483.3:p.Lys114del
NP_000483.3:p.Lys114del
LRG_663t1:c.340_342del
LRG_663:g.70182_70184del
LRG_663p1:p.Lys114del
NC_000007.13:g.117171019_117171021del
NM_000492.3:c.340_342del
NM_000492.4:c.340_342delAAGMANE SELECT

Protein change:

K114del

Links:

dbSNP: rs1554379808

NCBI 1000 Genomes Browser:

rs1554379808

Molecular consequence:

NM_000492.4:c.340_342del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV004223214	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Nov 28, 2023)	germline	clinical testing	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

SCV004223214

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Nov 28, 2023)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.

Prach L, Koepke R, Kharrazi M, Keiles S, Salinas DB, Reyes MC, Pian M, Opsimos H, Otsuka KN, Hardy KA, Milla CE, Zirbes JM, Chipps B, O'Bra S, Saeed MM, Sudhakar R, Lehto S, Nielson D, Shay GF, Seastrand M, Jhawar S, Nickerson B, et al.

J Mol Diagn. 2013 Sep;15(5):710-22. doi: 10.1016/j.jmoldx.2013.05.006. Epub 2013 Jun 28.

PubMed [citation]

PMID:: 23810505
PMCID:: PMC5707181

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004223214.1

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

Description

Variant summary: CFTR c.340_342delAAG (p.Lys114del) results in an in-frame deletion that is predicted to remove one amino acids from the encoded protein. The variant was absent in 251076 control chromosomes. c.340_342delAAG has been reported in the literature in siblings diagnosed with Cystic Fibrosis (Prach_2013). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 23810505). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

#	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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