NM_024675.3(PALB2):c.3300T>G (p.Thr1100=) AND Pancreatic cancer 3

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

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000114614.1

Allele description [Variation Report for NM_024675.3(PALB2):c.3300T>G (p.Thr1100=)]

NM_024675.3(PALB2):c.3300T>G (p.Thr1100=)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.3(PALB2):c.3300T>G (p.Thr1100=)
HGVS:
  • NC_000016.10:g.23607914A>C
  • NG_007406.1:g.38444T>G
  • NM_024675.3:c.3300T>G
  • NP_078951.2:p.Thr1100=
  • LRG_308t1:c.3300T>G
  • LRG_308:g.38444T>G
  • LRG_308p1:p.Thr1100=
  • NC_000016.9:g.23619235A>C
  • p.(=)
  • p.T1100T
  • r.(?)
Protein change:
Thr1100Thr
Links:
PALB2 database: PALB2_10159; dbSNP: 45516100
GMAF:
0.0176(C), 45516100
NCBI 1000 Genomes Browser:
rs45516100
Allele Frequency:
NaN, GO-ESP
Molecular consequence:
  • NM_024675.3:c.3300T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000148560PALB2 databaseno assertion criteria providedBenign
(Oct 18, 2012)
germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A recurrent mutation in PALB2 in Finnish cancer families.

Erkko H, Xia B, Nikkilä J, Schleutker J, Syrjäkoski K, Mannermaa A, Kallioniemi A, Pylkäs K, Karppinen SM, Rapakko K, Miron A, Sheng Q, Li G, Mattila H, Bell DW, Haber DA, Grip M, Reiman M, Jukkola-Vuorinen A, Mustonen A, Kere J, Aaltonen LA, et al.

Nature. 2007 Mar 15;446(7133):316-9. Epub 2007 Feb 7.

PubMed [citation]
PMID:
17287723

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
See all PubMed Citations (4)

Details of each submission

From PALB2 database, SCV000148560.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2017