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NM_000492.4(CFTR):c.1718C>T (p.Ser573Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 6, 2021
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:
RCV001375499.8

Allele description [Variation Report for NM_000492.4(CFTR):c.1718C>T (p.Ser573Phe)]

NM_000492.4(CFTR):c.1718C>T (p.Ser573Phe)

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.1718C>T (p.Ser573Phe)
Other names:
p.Ser573Phe
HGVS:
  • NC_000007.14:g.117590391C>T
  • NG_016465.4:g.129608C>T
  • NM_000492.4:c.1718C>TMANE SELECT
  • NP_000483.3:p.Ser573Phe
  • NP_000483.3:p.Ser573Phe
  • LRG_663t1:c.1718C>T
  • LRG_663:g.129608C>T
  • LRG_663p1:p.Ser573Phe
  • NC_000007.13:g.117230445C>T
  • NM_000492.3:c.1718C>T
  • NM_000492.4:c.1718C>T
Protein change:
S573F
Links:
dbSNP: rs772223589
NCBI 1000 Genomes Browser:
rs772223589
Molecular consequence:
  • NM_000492.4:c.1718C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001572344Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 6, 2021) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk.

Lim RM, Silver AJ, Silver MJ, Borroto C, Spurrier B, Petrossian TC, Larson JL, Silver LM.

Genet Med. 2016 Feb;18(2):174-9. doi: 10.1038/gim.2015.52. Epub 2015 Apr 16.

PubMed [citation]
PMID:
25880441

Molecular Docking and QSAR Studies as Computational Tools Exploring the Rescue Ability of F508del CFTR Correctors.

Righetti G, Casale M, Liessi N, Tasso B, Salis A, Tonelli M, Millo E, Pedemonte N, Fossa P, Cichero E.

Int J Mol Sci. 2020 Oct 29;21(21). doi:pii: E8084. 10.3390/ijms21218084.

PubMed [citation]
PMID:
33138251
PMCID:
PMC7663332

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001572344.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: CFTR c.1718C>T (p.Ser573Phe) results in a non-conservative amino acid change located in the ABC transporter-like domain (IPR003439) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 250418 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1718C>T in individuals affected with Chronic Pancreatitis Risk and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Jun 17, 2024