U.S. flag

An official website of the United States government

NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 8, 2022
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:
RCV000759032.4

Allele description [Variation Report for NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)]

NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)

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.1682C>A (p.Ala561Glu)
HGVS:
  • NC_000007.14:g.117590355C>A
  • NG_016465.4:g.129572C>A
  • NM_000492.4:c.1682C>AMANE SELECT
  • NP_000483.3:p.Ala561Glu
  • NP_000483.3:p.Ala561Glu
  • LRG_663t1:c.1682C>A
  • LRG_663:g.129572C>A
  • LRG_663p1:p.Ala561Glu
  • NC_000007.13:g.117230409C>A
  • NM_000492.3:c.1682C>A
Protein change:
A561E; ALA561GLU
Links:
OMIM: 602421.0136; dbSNP: rs121909047
NCBI 1000 Genomes Browser:
rs121909047
Molecular consequence:
  • NM_000492.4:c.1682C>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000888073Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Jun 8, 2022) 		unknownclinical testing

PubMed (14)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Cystic Fibrosis--clinical features of a sample of Portuguese patients.

Guardiano M, Vaz LG.

Rev Port Pneumol. 2005 Jul-Aug;11(4):381-406. English, Portuguese.

PubMed [citation]
PMID:
16240056

CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis.

Hirtz S, Gonska T, Seydewitz HH, Thomas J, Greiner P, Kuehr J, Brandis M, Eichler I, Rocha H, Lopes AI, Barreto C, Ramalho A, Amaral MD, Kunzelmann K, Mall M.

Gastroenterology. 2004 Oct;127(4):1085-95.

PubMed [citation]
PMID:
15480987
See all PubMed Citations (14)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888073.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (14)

Description

The CFTR c.1682C>A (p.Ala561Glu) variant has been shown to result in severely reduced chloride conductance and CFTR processing, and a trafficking defect with protein mislocalization (PMID: 25489051 (2015), 23891399 (2014), 14623323 (2003)). The best available variant frequency is uninformative because it is below the disease allele frequency. It was found in at least one symptomatic patient. It is predicted to have a damaging effect on the protein. The variant occurs in multiple cases with a lone recessive pathogenic/likely pathogenic variant in the same gene, with phenotype known to be consistent with disease.

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

Last Updated: May 19, 2024