PALB2:c.1222T>C (p.Tyr408His) AND Pancreatic cancer 3

Clinical significance:Uncertain significance (Last evaluated: Jul 16, 2012)

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000114465.1

Allele description [Variation Report for PALB2:c.1222T>C (p.Tyr408His)]

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
PALB2:c.1222T>C (p.Tyr408His)
HGVS:
  • NC_000016.10:g.23635324A>G
  • NG_007406.1:g.11034T>C
  • NM_024675.3:c.1222T>C
  • NP_078951.2:p.Tyr408His
  • LRG_308t1:c.1222T>C
  • LRG_308:g.11034T>C
  • LRG_308p1:p.Tyr408His
  • NC_000016.9:g.23646645A>G
  • p.(Tyr408His)
  • r.(?)
Protein change:
Y408H
Links:
Molecular consequence:
  • NM_024675.3:c.1222T>C: missense variant [Sequence Ontology: SO:0001583]

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
SCV000148411PALB2 databaseclassified by single submitterUncertain significance
(Jul 16, 2012)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

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, SCV000148411.1

#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: Jun 27, 2014

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