NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile) AND Cystic fibrosis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 1990
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000007537.6

Allele description [Variation Report for NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile)]

NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile)

Genes:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC111674475:CFTR intron 11 enhancer [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile)

HGVS:

NC_000007.14:g.117587800G>T
NG_016465.4:g.127017G>T
NG_056131.3:g.755G>T
NM_000492.4:c.1646G>TMANE SELECT
NP_000483.3:p.Ser549Ile
NP_000483.3:p.Ser549Ile
LRG_663t1:c.1646G>T
LRG_663:g.127017G>T
LRG_663p1:p.Ser549Ile
NC_000007.13:g.117227854G>T
NM_000492.3:c.1646G>T
P13569:p.Ser549Ile

Protein change:

S549I; SER549ILE

Links:

UniProtKB: P13569#VAR_000177; OMIM: 602421.0011; dbSNP: rs121908755

NCBI 1000 Genomes Browser:

rs121908755

Molecular consequence:

NM_000492.4:c.1646G>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027738	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 1990)	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

SCV000027738

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 1990)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, et al.

Proc Natl Acad Sci U S A. 1990 Nov;87(21):8447-51.

PubMed [citation]

PMID:: 2236053
PMCID:: PMC54973

Details of each submission

From OMIM, SCV000027738.3

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

Description

In a patient with cystic fibrosis (CF; 219700), Kerem et al. (1990) detected a G-to-T change at nucleotide 1778 in exon 11 of the CFTR gene, responsible for substitution of isoleucine for serine at amino acid 549 (S549I).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine