NM_024675.3(PALB2):c.3116delA (p.Asn1039Ilefs) AND Pancreatic cancer 3

Clinical significance:conflicting data from submitters, Pathogenic(1);risk factor(1) (Last evaluated: Jul 16, 2012)

Review status:(0/4)0 stars out of maximum of 4 stars

conflicting data from submitters (classified by multiple submitters)

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000114597.2

Allele description [Variation Report for NM_024675.3(PALB2):c.3116delA (p.Asn1039Ilefs)]

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.3(PALB2):c.3116delA (p.Asn1039Ilefs)
HGVS:
  • NC_000016.10:g.23614089delT
  • NG_007406.1:g.32269delA
  • NM_024675.3:c.3116delA
  • NP_078951.2:p.Asn1039Ilefs
  • LRG_308t1:c.3116delA
  • LRG_308:g.32269delA
  • LRG_308p1:p.Asn1039Ilefs
  • NC_000016.9:g.23625410delT
  • NM_024675.3:c.3116del
  • p.(Asn1039Ilefs*2)
  • p.(Asn1039fs*)
  • r.(?)
Links:
PALB2 database: PALB2_00014; OMIM: 610355.0005; OMIM: 610355.0009; dbSNP: 180177133
NCBI 1000 Genomes Browser:
rs180177133
Molecular consequence:
  • NM_024675.3:c.3116delA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Pancreatic cancer 3 (PNCA3)
Synonyms:
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
Identifiers:
MedGen: C3150547; OMIM: 613348; Orphanet: 1333
Age of onset:
Adulthood
Prevalence:
1-9 / 1 000 000 1333

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000021463OMIMrisk factor
(Apr 17, 2012)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000148543PALB2 databaseclassified by single submitterPathogenic
(Jul 16, 2012)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.

Jones S, Hruban RH, Kamiyama M, Borges M, Zhang X, Parsons DW, Lin JC, Palmisano E, Brune K, Jaffee EM, Iacobuzio-Donahue CA, Maitra A, Parmigiani G, Kern SE, Velculescu VE, Kinzler KW, Vogelstein B, Eshleman JR, Goggins M, Klein AP.

Science. 2009 Apr 10;324(5924):217. doi: 10.1126/science.1171202. Epub 2009 Mar 5.

PubMed [citation]
PMID:
19264984
PMCID:
PMC2684332

Details of each submission

From OMIM, SCV000021463.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with familial pancreatic cancer (PNCA3; 613348), Jones et al. (2009) identified a heterozygous germline deletion of adenine at nucleotide 3116 in exon 11 of the PALB2 gene.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From PALB2 database, SCV000148543.1

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

Last Updated: Aug 5, 2014

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