NM_000492.4(CFTR):c.1039C>A (p.Arg347Ser) AND Cystic fibrosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 3, 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:: RCV002397048.2

Allele description [Variation Report for NM_000492.4(CFTR):c.1039C>A (p.Arg347Ser)]

NM_000492.4(CFTR):c.1039C>A (p.Arg347Ser)

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.1039C>A (p.Arg347Ser)

HGVS:

NC_000007.14:g.117540269C>A
NG_016465.4:g.79486C>A
NM_000492.4:c.1039C>AMANE SELECT
NP_000483.3:p.Arg347Ser
NP_000483.3:p.Arg347Ser
LRG_663t1:c.1039C>A
LRG_663:g.79486C>A
LRG_663p1:p.Arg347Ser
NC_000007.13:g.117180323C>A
NM_000492.3:c.1039C>A

Protein change:

R347S

Molecular consequence:

NM_000492.4:c.1039C>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002701113	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 3, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002701113

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 3, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002701113.2

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

Description

The p.R347S variant (also known as c.1039C>A), located in coding exon 8 of the CFTR gene, results from a C to A substitution at nucleotide position 1039. The arginine at codon 347 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. Based on internal structural analysis, this alteration is considered to be mildly destabilizing to the local structure (Ambry internal data). In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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