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NM_000492.4(CFTR):c.2346C>A (p.Asn782Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 5, 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:
RCV001844025.2

Allele description [Variation Report for NM_000492.4(CFTR):c.2346C>A (p.Asn782Lys)]

NM_000492.4(CFTR):c.2346C>A (p.Asn782Lys)

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.2346C>A (p.Asn782Lys)
Other names:
p.Asn782Lys
HGVS:
  • NC_000007.14:g.117592513C>A
  • NG_016465.4:g.131730C>A
  • NM_000492.4:c.2346C>AMANE SELECT
  • NP_000483.3:p.Asn782Lys
  • NP_000483.3:p.Asn782Lys
  • LRG_663t1:c.2346C>A
  • LRG_663:g.131730C>A
  • LRG_663p1:p.Asn782Lys
  • NC_000007.13:g.117232567C>A
  • NM_000492.3:c.2346C>A
Protein change:
N782K
Links:
dbSNP: rs397508369
NCBI 1000 Genomes Browser:
rs397508369
Molecular consequence:
  • NM_000492.4:c.2346C>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002103515Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Dec 5, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis.

Girodon E, Sternberg D, Chazouillères O, Cazeneuve C, Huot D, Calmus Y, Poupon R, Goossens M, Housset C.

J Hepatol. 2002 Aug;37(2):192-7.

PubMed [citation]
PMID:
12127423

Lack of association of common cystic fibrosis transmembrane conductance regulator gene mutations with primary sclerosing cholangitis.

Gallegos-Orozco JF, E Yurk C, Wang N, Rakela J, Charlton MR, Cutting GR, Balan V.

Am J Gastroenterol. 2005 Apr;100(4):874-8.

PubMed [citation]
PMID:
15784035

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002103515.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: CFTR c.2346C>A (p.Asn782Lys) results in a non-conservative amino acid change located in the CFTR regulator domain (IPR025837) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 184680 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2346C>A has been reported in the literature as a non-informative genotype (second allele not specified) in at-least one individual affected with Primary Sclerosing Cholangitis (PSC) (example, Giordon_2002, cited in Gallegos-Orozco_2005). These report(s) do not provide unequivocal conclusions about association of the variant with Cystic Fibrosis. The following publications have been ascertained in the context of this evaluation (PMID: 15784035, 12127423). 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 uncertain significance.

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

Last Updated: Feb 14, 2024