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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004223214Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Nov 28, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024