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NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) AND CFTR-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 3, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004734531.1

Allele description [Variation Report for NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)]

NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)

Gene:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
HGVS:
  • NC_000007.14:g.117480108C>T
  • NG_016465.4:g.19325C>T
  • NG_056120.2:g.4138C>T
  • NM_000492.4:c.14C>TMANE SELECT
  • NP_000483.3:p.Pro5Leu
  • NP_000483.3:p.Pro5Leu
  • LRG_663t1:c.14C>T
  • LRG_663:g.19325C>T
  • LRG_663p1:p.Pro5Leu
  • NC_000007.13:g.117120162C>T
  • NG_056120.1:g.4138C>T
  • NM_000492.3:c.14C>T
  • NM_000492.4:c.14C>T
Protein change:
P5L
Links:
dbSNP: rs193922501
NCBI 1000 Genomes Browser:
rs193922501
Molecular consequence:
  • NM_000492.4:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CFTR-related disorder (CFTR-RD)
Synonyms:
CFTR-related disorders; CFTR-related condition
Identifiers:
MedGen: C5924204

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005362178PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Apr 3, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005362178.1

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

Description

The CFTR c.14C>T variant is predicted to result in the amino acid substitution p.Pro5Leu. This variant has been reported in the compound heterozygous state in individuals with cystic fibrosis or chronic pancreatitis, typically with mild features and a second pathogenic variant that has been associated with severe forms of cystic fibrosis such as p.Phe508del (Gené et al. 2008. PubMed ID: 18306312; Thelin et al. 2007. PubMed ID: 17235394; Spicuzza et al. 2012. PubMed ID: 21983161; Steiner et al. 2011. PubMed ID: 21520337). In vitro studies indicate this variant results in impaired CFTR function, presumably through a loss of glycosylation leading to intracellular retention of the receptor (Gené et al. 2008. PubMed ID: 18306312). However, to our knowledge there are no reports of individuals with classic cystic fibrosis who are homozygous for this variant. This variant is reported in 0.0054% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as likely pathogenic.

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

Last Updated: Nov 24, 2024