NM_000492.3(CFTR):c.3718-2473_3718-2472insCAGAGT AND Hereditary pancreatitis

Clinical significance:Uncertain significance (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000029531.1

Allele description [Variation Report for ]

Gene:
CFTR:cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) [Gene - OMIM]
Variant type:
Insertion
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.3(CFTR):c.3718-2473_3718-2472insCAGAGT
HGVS:
  • NC_000007.14:g.117639965_117639966insCAGAGT
  • NG_016465.3:g.179182_179183insCAGAGT
  • NM_000492.3:c.3718-2473_3718-2472insCAGAGT
  • NC_000007.13:g.117280019_117280020insCAGAGT
  • NG_016465.2:g.179182_179183insCAGAGT
  • NM_000492.3:c.3718-2473insCAGAGT
Links:
dbSNP: 397515289
NCBI 1000 Genomes Browser:
rs397515289
Molecular consequence:
  • NM_000492.3:c.3718-2473_3718-2472insCAGAGT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary pancreatitis (PCTT)
Synonyms:
PANCREATITIS, CHRONIC; heritable chronic pancreatitis; RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE; See all synonyms [MedGen]
Identifiers:
MedGen: C0238339; Orphanet: 676; OMIM: 167800
Age of onset:
Childhood
Prevalence:
1-9 / 1 000 000 676

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000052183LabCorpclassified by single submitteruncertain
(Aug 18, 2011)
germlineliterature only

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only

Details of each submission

From LabCorp, SCV000052183.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided

Last Updated: Mar 23, 2015

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