NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) AND Pancreatic cancer 3

Clinical significance:Pathogenic (Last evaluated: Oct 18, 2012)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000114635.1

Allele description [Variation Report for NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter)]

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter)
HGVS:
  • NC_000016.10:g.23603471G>C
  • NG_007406.1:g.42887C>G
  • NM_024675.3:c.3549C>G
  • NP_078951.2:p.Tyr1183Ter
  • LRG_308t1:c.3549C>G
  • LRG_308:g.42887C>G
  • LRG_308p1:p.Tyr1183Ter
  • NC_000016.9:g.23614792G>C
  • p.(Tyr1183*)
  • p.Y1183*
  • r.(?)
Protein change:
Y1183*; TYR1183TER
Links:
PALB2 database: PALB2_00008; OMIM: 610355.0003; dbSNP: 118203998
NCBI 1000 Genomes Browser:
rs118203998
Molecular consequence:
  • NM_024675.3:c.3549C>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000148582PALB2 databaseclassified by single submitterPathogenic
(Oct 18, 2012)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
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

PALB2 mutations in familial breast and pancreatic cancer.

Hofstatter EW, Domchek SM, Miron A, Garber J, Wang M, Componeschi K, Boghossian L, Miron PL, Nathanson KL, Tung N.

Fam Cancer. 2011 Jun;10(2):225-31. doi: 10.1007/s10689-011-9426-1.

PubMed [citation]
PMID:
21365267
PMCID:
PMC3836668

Details of each submission

From PALB2 database, SCV000148582.1

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

Last Updated: Oct 11, 2014

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