NM_000492.4(CFTR):c.2411A>T (p.Glu804Val) 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:: RCV000577764.1

Allele description [Variation Report for NM_000492.4(CFTR):c.2411A>T (p.Glu804Val)]

NM_000492.4(CFTR):c.2411A>T (p.Glu804Val)

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.2411A>T (p.Glu804Val)

HGVS:

NC_000007.14:g.117592578A>T
NG_016465.4:g.131795A>T
NM_000492.4:c.2411A>TMANE SELECT
NP_000483.3:p.Glu804Val
NP_000483.3:p.Glu804Val
LRG_663t1:c.2411A>T
LRG_663:g.131795A>T
LRG_663p1:p.Glu804Val
NC_000007.13:g.117232632A>T
NM_000492.3:c.2411A>T

Protein change:

E804V

Links:

dbSNP: rs397508374

NCBI 1000 Genomes Browser:

rs397508374

Molecular consequence:

NM_000492.4:c.2411A>T - 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
SCV000678995	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000678995

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no classification provided

not provided

germline

literature only

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

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

Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens.

Ravnik-Glavac M, Dean M, Glavac D.

Pflugers Arch. 2000;439(3 Suppl):R53-5.

PubMed [citation]

PMID:: 10653141

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000678995.1

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

#	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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