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NM_000492.3(CFTR):c.1265C>T (p.Ser422Phe)

Variation ID: Help
76610
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign
Last evaluated:
Jun 7, 2016
Number of submission(s):
1
See supporting ClinVar records

Allele(s) Help

NM_000492.3(CFTR):c.1265C>T (p.Ser422Phe)

Allele ID:
87501
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
  • Chr7: 117548696 (on Assembly GRCh38)
  • Chr7: 117188750 (on Assembly GRCh37)
  • Chr7: 116975986 (on Assembly NCBI36)
Protein change:
S422F
HGVS:
  • NG_016465.4:g.87913C>T
  • NM_000492.3:c.1265C>T
  • NP_000483.3:p.Ser422Phe
  • NC_000007.14:g.117548696C>T (GRCh38)
  • NC_000007.12:g.116975986C>T (NCBI36)
  • NC_000007.13:g.117188750C>T (GRCh37)
Links:
dbSNP: 201880593
NCBI 1000 Genomes Browser:
rs201880593
Molecular consequence:
NM_000492.3:c.1265C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00249 (T)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Benign
(Jun 7, 2016)
criteria provided, single submitter
clinical testinggermline
    Center for Pediatric Genomic Medicine,Children's Mercy Hospital and ClinicsSCV000511495.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicsnot providednot providedgermlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Apr 2, 2018