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NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg) AND CFTR-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 28, 2018
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:
RCV001832337.8

Allele description [Variation Report for NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg)]

NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg)

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.2153C>G (p.Pro718Arg)
Other names:
p.Pro718Arg
HGVS:
  • NC_000007.14:g.117592320C>G
  • NG_016465.4:g.131537C>G
  • NM_000492.4:c.2153C>GMANE SELECT
  • NP_000483.3:p.Pro718Arg
  • LRG_663t1:c.2153C>G
  • LRG_663:g.131537C>G
  • NC_000007.13:g.117232374C>G
  • NC_000007.13:g.117232374C>G
  • NM_000492.3:c.2153C>G
Protein change:
P718R
Links:
dbSNP: rs142432539
NCBI 1000 Genomes Browser:
rs142432539
Molecular consequence:
  • NM_000492.4:c.2153C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CFTR-related disorder (CFTR-RD)
Synonyms:
CFTR-related disorders; CFTR-related condition
Identifiers:
MedGen: C5924204

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002080714Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jul 28, 2018) 		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., SCV002080714.1

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

Last Updated: Nov 30, 2024