NM_000492.3(CFTR):c.224G>A (p.Arg75Gln)

NM_000492.3(CFTR):c.224G>A (p.Arg75Gln)

Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
  • Chr7:117509093 (on Assembly GRCh38)
  • Chr7:117149147 (on Assembly GRCh37)
Protein change:
R75Q
HGVS:
  • NG_016465.3:g.48310G>A
  • NM_000492.3:c.224G>A
  • NC_000007.14:g.117509093G>A
  • NC_000007.13:g.117149147G>A
  • NP_000483.3:p.Arg75Gln
  • NG_016465.1:g.34131G>A
Links:
dbSNP: 1800076
NCBI 1000 Genomes Browser:
rs1800076
Molecular consequence:
NM_000492.3:c.224G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.02368 (A)
  • GMAF 0.01330 (A)

Clinical significance

NM_000492.3(CFTR):c.224G>A (p.Arg75Gln)

Clinical significance:
conflicting data from submitters
Benign(1);Likely benign(1);Pathogenic(1);Uncertain significance(1)
Review status:
(0/4)0 stars out of maximum of 4 stars
conflicting data from submitters (classified by multiple submitters)
Number of submission(s):
4
Condition(s)
See supporting ClinVar records

1 Affected Gene

Recent Activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Likely benign
(Aug 18, 2011)
classified by single submitter
(clinical testing)
clinical testinggermlineLabCorp
(Aug 18, 2011)
SCV000052145
Uncertain significance
(May 10, 2013)
classified by single submitter
(clinical testing)
clinical testing
  • not provided
germlineCitation LinkEmory Genetics Laboratory
(Nov 21, 2013)
SCV000110853
Benign
(Nov 6, 2013)
classified by single submitter
(clinical testing)
clinical testing
  • AllHighlyPenetrant (Autosomal recessive inheritance)
germlineGenetic Services Laboratory, University of Chicago
(Apr 30, 2014)
SCV000150650
Pathogenic
(Mar 13, 2014)
classified by single submitter
(literature only)
literature onlygermlinePubMed (1)
Citation Link
GeneReviews
(May 29, 2014)
SCV000153745

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not provided50not providedgermline, not providednot provided

Emory Genetics Laboratory

Observations

FamiliesIndividualsSegregationAllele originObserved phenotypesEthnicityGeographic originCollection methodDescription
not providednot providednot providedgermlinenot providednot providednot providedclinical testing
(GTR000503136)
See description

GeneReviews

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermlinehttp://www.ncbi.nlm.nih.gov/books/NBK190101/

Description

not provided

Genetic Services Laboratory

Observations

FamiliesIndividualsSegregationAllele originObserved phenotypesEthnicityGeographic originCollection methodDescription
not providednot providednot providedgermlinenot providednot providednot providedclinical testingSee description

LabCorp

Observations

FamiliesIndividualsSegregationAllele originObserved phenotypesEthnicityGeographic originCollection method
not provided50not providedgermlinenot providednot providednot providedclinical testing

Last Updated: Aug 5, 2014

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