• under review

CFTR:c.3763T>C (p.Ser1255Pro) AND CFTR-related disorders

Clinical significance:pathogenic (Last evaluated: Feb 1, 2013)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
under review
Accession:
RCV000046974.1

Allele description [Variation Report for ]

Gene:
CFTR:cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Preferred name:
CFTR:c.3763T>C (p.Ser1255Pro)
HGVS:
  • NC_000007.13:g.117282537T>C
  • NG_016465.3:g.181700T>C
  • NM_000492.3:c.3763T>C
  • NG_016465.1:g.167521T>C
  • NP_000483.3:p.Ser1255Pro
Protein change:
S1255P; SER1255PRO
Links:
OMIM: 602421.0113; dbSNP: 121909041
NCBI 1000 Genomes Browser:
rs121909041
Molecular consequence:
  • NM_000492.3:c.3763T>C - missense - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CFTR-related disorders
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000074987Invitae, Inc.classified by single submitterpathogenic
(Feb 1, 2013)
germlinecuration

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene.

Lissens W, Bonduelle M, Malfroot A, Dab I, Liebaers I.

Hum Mol Genet. 1992 Sep;1(6):441-2. No abstract available.

PubMed [citation]
PMID:
1284530

Ivacaftor potentiation of multiple CFTR channels with gating mutations.

Yu H, Burton B, Huang CJ, Worley J, Cao D, Johnson JP Jr, Urrutia A, Joubran J, Seepersaud S, Sussky K, Hoffman BJ, Van Goor F.

J Cyst Fibros. 2012 May;11(3):237-45. doi: 10.1016/j.jcf.2011.12.005. Epub 2012 Jan 30.

PubMed [citation]
PMID:
22293084

Details of each submission

From Invitae, Inc., SCV000074987.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 4, 2013

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