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NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 7, 2018
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:
RCV000757081.8

Allele description [Variation Report for NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser)]

NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser)

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.2433G>T (p.Arg811Ser)
HGVS:
  • NC_000007.14:g.117592600G>T
  • NG_016465.4:g.131817G>T
  • NM_000492.4:c.2433G>TMANE SELECT
  • NP_000483.3:p.Arg811Ser
  • NP_000483.3:p.Arg811Ser
  • LRG_663t1:c.2433G>T
  • LRG_663:g.131817G>T
  • LRG_663p1:p.Arg811Ser
  • NC_000007.13:g.117232654G>T
  • NM_000492.3:c.2433G>T
  • NM_000492.4:c.2433G>T
Protein change:
R811S
Links:
dbSNP: rs778688276
NCBI 1000 Genomes Browser:
rs778688276
Molecular consequence:
  • NM_000492.4:c.2433G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000885183ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(May 7, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885183.1

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

Description

The CFTR c.2433G>T; p.Arg811Ser variant (rs778688276) has been identified during cystic fibrosis (CF) newborn screening in one clinically asymptomatic infant who also harbored a common pathogenic CFTR variant (Prach 2013). It is unknown whether or not these two variants were present on the same or opposite chromosome, and follow-up of this patient showed no manifestations of CF. The arginine at codon 811 is highly conserved but computational algorithms (PolyPhen-2: damaging, SIFT: tolerated) are inconclusive on the effect of this variant on protein structure and function. Due to limited information regarding this variant, its clinical significance cannot be determined with certainty. References: Prach L et al. Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. J Mol Diagn. 2013 Sep;15(5):710-22.

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

Last Updated: Sep 29, 2024