U.S. flag

An official website of the United States government

NM_000492.4(CFTR):c.394_398del (p.Ile132fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 27, 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:
RCV001812959.13

Allele description [Variation Report for NM_000492.4(CFTR):c.394_398del (p.Ile132fs)]

NM_000492.4(CFTR):c.394_398del (p.Ile132fs)

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.394_398del (p.Ile132fs)
HGVS:
  • NC_000007.14:g.117531019_117531023del
  • NG_016465.4:g.70236_70240del
  • NM_000492.4:c.394_398delMANE SELECT
  • NP_000483.3:p.Ile132fs
  • LRG_663:g.70236_70240del
  • NC_000007.13:g.117171073_117171077del
  • NC_000007.13:g.117171073_117171077delATTGT
Protein change:
I132fs
Links:
dbSNP: rs1798854245
NCBI 1000 Genomes Browser:
rs1798854245
Molecular consequence:
  • NM_000492.4:c.394_398del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001472638ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Pathogenic
(Oct 27, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001472638.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CFTR c.394_398delATTGT; p.Ile132fs variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting 5 nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, several downstream truncating variants have been reported in individuals affected with cystic fibrosis and are considered pathogenic (Castellani 2008, Lazarin 2013). Based on available information, this variant is considered to be pathogenic. References: Castellani C et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.J Cyst Fibros. 2008 May;7(3):179-96. Lazarin GA et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genet Med. 2013 Mar;15(3):178-86.

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

Last Updated: Oct 26, 2024