NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) AND not provided

Germline classification:: Conflicting classifications of pathogenicity (3 submissions)
Last evaluated:: Jun 26, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV002477015.10

Allele description [Variation Report for NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)]

NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)

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.853A>T (p.Ile285Phe)

HGVS:

NC_000007.14:g.117536657A>T
NG_016465.4:g.75874A>T
NM_000492.4:c.853A>TMANE SELECT
NP_000483.3:p.Ile285Phe
NP_000483.3:p.Ile285Phe
LRG_663t1:c.853A>T
LRG_663:g.75874A>T
LRG_663p1:p.Ile285Phe
NC_000007.13:g.117176711A>T
NM_000492.3:c.853A>T

Protein change:

I285F

Links:

dbSNP: rs151073129

NCBI 1000 Genomes Browser:

rs151073129

Molecular consequence:

NM_000492.4:c.853A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002774136	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Aug 25, 2021)	unknown	clinical testing	PubMed (9) [See all records that cite these PMIDs] 15858154, 31808782, 30996306, 26471113, 25735457, 25087612, 19810821, 16362824, 26467025
SCV003800282	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Likely Benign (Jan 25, 2024)	germline	clinical testing	Citation Link,
SCV005441445	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 26, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002774136

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Aug 25, 2021)

unknown

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

SCV003800282

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Likely Benign
(Jan 25, 2024)

germline

clinical testing

Citation Link,

SCV005441445

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 26, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

Schrijver I, Ramalingam S, Sankaran R, Swanson S, Dunlop CL, Keiles S, Moss RB, Oehlert J, Gardner P, Wassman ER, Kammesheidt A.

J Mol Diagn. 2005 May;7(2):289-99.

PubMed [citation]

PMID:: 15858154
PMCID:: PMC1867528

Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases.

Michels M, Matte U, Fraga LR, Mancuso ACB, Ligabue-Braun R, Berneira EFR, Siebert M, Sanseverino MTV.

Genet Mol Biol. 2019 Jul-Sep;42(3):560-570. doi: 10.1590/1678-4685-GMB-2018-0148. Epub 2019 Nov 14.

PubMed [citation]

PMID:: 31808782
PMCID:: PMC6905453

See all PubMed Citations (9)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002774136.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV003800282.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV005441445.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Identified in an individual with chronic respiratory symptoms (PMID: 15858154); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34996830, 30996306, 16362824, 25087612, 15858154)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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