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NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) AND CFTR-related disorder

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 19, 2023
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:
RCV001826538.4

Allele description [Variation Report for NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)]

NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)

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.1647T>G (p.Ser549Arg)
Other names:
S549R (T->G)
HGVS:
  • NC_000007.14:g.117587801T>G
  • NG_016465.4:g.127018T>G
  • NG_056131.3:g.756T>G
  • NM_000492.4:c.1647T>GMANE SELECT
  • NP_000483.3:p.Ser549Arg
  • NP_000483.3:p.Ser549Arg
  • LRG_663t1:c.1647T>G
  • LRG_663:g.127018T>G
  • LRG_663p1:p.Ser549Arg
  • NC_000007.13:g.117227855T>G
  • NG_056131.1:g.125T>G
  • NM_000492.3:c.1647T>G
  • P13569:p.Ser549Arg
Protein change:
S549R; SER549ARG
Links:
PharmGKB: 1183960775; PharmGKB: 1183960775PA165950341; PharmGKB Clinical Annotation: 1183960775; UniProtKB: P13569#VAR_000178; OMIM: 602421.0012; dbSNP: rs121909005
NCBI 1000 Genomes Browser:
rs121909005
Molecular consequence:
  • NM_000492.4:c.1647T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CFTR-related disorder (CFTR-RD)
Synonyms:
CFTR-related disorders; CFTR-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002080631Natera, Inc.
no assertion criteria provided
Pathogenic
(Mar 17, 2017) 		germlineclinical testing

SCV004731598PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Dec 19, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002080631.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From PreventionGenetics, part of Exact Sciences, SCV004731598.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CFTR c.1647T>G variant is predicted to result in the amino acid substitution p.Ser549Arg. This variant has been documented as causative for cystic fibrosis (Kerem et al. 1990. PubMed ID: 2236053; Table S2 - Sosnay et al. 2013. PubMed ID: 23974870; cftr2.org). This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD. In summary, this variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024