NM_000492.4(CFTR):c.2399C>G (p.Ala800Gly) AND Cystic fibrosis

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000577537.1

Allele description [Variation Report for NM_000492.4(CFTR):c.2399C>G (p.Ala800Gly)]

NM_000492.4(CFTR):c.2399C>G (p.Ala800Gly)

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.2399C>G (p.Ala800Gly)

HGVS:

NC_000007.14:g.117592566C>G
NG_016465.4:g.131783C>G
NM_000492.4:c.2399C>GMANE SELECT
NP_000483.3:p.Ala800Gly
NP_000483.3:p.Ala800Gly
LRG_663t1:c.2399C>G
LRG_663:g.131783C>G
LRG_663p1:p.Ala800Gly
NC_000007.13:g.117232620C>G
NM_000492.3:c.2399C>G
P13569:p.Ala800Gly

Protein change:

A800G

Links:

UniProtKB: P13569#VAR_000217; dbSNP: rs397508373

NCBI 1000 Genomes Browser:

rs397508373

Molecular consequence:

NM_000492.4:c.2399C>G - 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
SCV000679351	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no classification provided	not provided	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 7529962, 20059485, 9736778

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000679351

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no classification provided

not provided

germline

literature only

PubMed (3)
[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	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

Mercier B, Verlingue C, Lissens W, Silber SJ, Novelli G, Bonduelle M, Audrézet MP, Férec C.

Am J Hum Genet. 1995 Jan;56(1):272-7.

PubMed [citation]

PMID:: 7529962
PMCID:: PMC1801292

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Dorfman R, Nalpathamkalam T, Taylor C, Gonska T, Keenan K, Yuan XW, Corey M, Tsui LC, Zielenski J, Durie P.

Clin Genet. 2010 May;77(5):464-73. doi: 10.1111/j.1399-0004.2009.01351.x. Epub 2009 Jan 6.

PubMed [citation]

PMID:: 20059485

See all PubMed Citations (3)

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000679351.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

#	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: Apr 23, 2022

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