NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 23, 2017
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:: RCV000596840.6

Allele description [Variation Report for NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)]

NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)

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.330C>A (p.Asp110Glu)

HGVS:

NC_000007.14:g.117530955C>A
NG_016465.4:g.70172C>A
NM_000492.4:c.330C>AMANE SELECT
NP_000483.3:p.Asp110Glu
NP_000483.3:p.Asp110Glu
LRG_663t1:c.330C>A
LRG_663:g.70172C>A
LRG_663p1:p.Asp110Glu
NC_000007.13:g.117171009C>A
NM_000492.3:c.330C>A

Protein change:

D110E

Links:

PharmGKB: 1449191401PA165950341; dbSNP: rs397508537

NCBI 1000 Genomes Browser:

rs397508537

Molecular consequence:

NM_000492.4:c.330C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000708644	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (May 23, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20538955, 22326559 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000708644

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(May 23, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport.

Sermet-Gaudelus I, Girodon E, Sands D, Stremmler N, Vavrova V, Deneuville E, Reix P, Bui S, Huet F, Lebourgeois M, Munck A, Iron A, Skalicka V, Bienvenu T, Roussel D, Lenoir G, Bellon G, Sarles J, Macek M, Roussey M, Fajac I, Edelman A.

Am J Respir Crit Care Med. 2010 Oct 1;182(7):929-36. doi: 10.1164/rccm.201003-0382OC. Epub 2010 Jun 10.

PubMed [citation]

PMID:: 20538955

Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.

Poulou M, Fylaktou I, Fotoulaki M, Kanavakis E, Tzetis M.

J Cyst Fibros. 2012 Jul;11(4):344-8. doi: 10.1016/j.jcf.2012.01.004. Epub 2012 Feb 11.

PubMed [citation]

PMID:: 22326559

Details of each submission

From Eurofins Ntd Llc (ga), SCV000708644.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

#	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		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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