NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) AND multiple conditions

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 31, 2025
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001004254.2

Allele description [Variation Report for NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)]

NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)

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.1055G>A (p.Arg352Gln)

HGVS:

NC_000007.14:g.117540285G>A
NG_016465.4:g.79502G>A
NM_000492.4:c.1055G>AMANE SELECT
NP_000483.3:p.Arg352Gln
NP_000483.3:p.Arg352Gln
LRG_663t1:c.1055G>A
LRG_663:g.79502G>A
LRG_663p1:p.Arg352Gln
NC_000007.13:g.117180339G>A
NM_000492.3:c.1055G>A
P13569:p.Arg352Gln

Protein change:

R352Q; ARG352GLN

Links:

Genetic Testing Registry (GTR): GTR000074114; UniProtKB: P13569#VAR_000156; OMIM: 602421.0092; dbSNP: rs121908753

Molecular consequence:

NM_000492.4:c.1055G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cystic fibrosis (CF)
Synonyms:: MUCOVISCIDOSIS
Identifiers:: MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700

Name:: Congenital bilateral aplasia of vas deferens from CFTR mutation (CBAVD)
Identifiers:: MONDO: MONDO:0010178; MedGen: C0403814; Orphanet: 48; OMIM: 277180

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001163130	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV007539673	Otogenetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 31, 2025)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 23891399, 23974870, 7544319, 19318346, 21520337, 27659740, 19897426, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001163130

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV007539673

Otogenetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 31, 2025)

germline

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.

Van Goor F, Yu H, Burton B, Hoffman BJ.

J Cyst Fibros. 2014 Jan;13(1):29-36. doi: 10.1016/j.jcf.2013.06.008. Epub 2013 Jul 23.

PubMed [citation]

PMID:: 23891399

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR.

Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25.

PubMed [citation]

PMID:: 23974870
PMCID:: PMC3874936

See all PubMed Citations (8)

Details of each submission

From Baylor Genetics, SCV001163130.1

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

#	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 Otogenetics, SCV007539673.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

Description

PS3: Well-established in vitro and in vivo functional studies supportive of damaging effect on the gene product, with low residual enzymatic activity relative to wild-type reported (PMID: 23891399, 23974870); PM2: Maximum gnomAD MAF of 0.0044% in South Asian (SAS) subpopulation (<0.28% threshold); PM3_Strong: Variant reported in homozygous state in one affected individual and in trans with 4 pathogenic variants in 6 individuals affected with cystic fibrosis (PMID: 7544319, 19318346, 21520337, 27659740); PM5: Likely pathogenic missense amino acid change occurs in same position: c.1054C>T; p.Arg352Trp (PMID: 19897426); PP3: In-silico models predict deleterious effect (Revel = 0.8, BayesDel = 0.4)

#	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

Last Updated: Aug 4, 2026

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