NM_024675.3(PALB2):c.3116delA (p.Asn1039Ilefs) AND Breast cancer, susceptibility to

Clinical significance:risk factor (Last evaluated: Feb 1, 2007)

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:
RCV000001309.2

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

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

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
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*)
  • p.N1039Ifs*2
  • 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:
Breast cancer, susceptibility to
Identifiers:
MedGen: CN068448
Prevalence:
Risk of 40%-80% for breast cancer 1:400 http://www.ncbi.nlm.nih.gov/books/NBK1247

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021459OMIMno assertion criteria providedrisk factor
(Feb 1, 2007)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.

Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, Neveling K, Kelly P, Seal S, Freund M, Wurm M, Batish SD, Lach FP, Yetgin S, Neitzel H, Ariffin H, Tischkowitz M, Mathew CG, Auerbach AD, Rahman N.

Nat Genet. 2007 Feb;39(2):162-4. Epub 2006 Dec 31.

PubMed [citation]
PMID:
17200671

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.

Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR.

Nat Genet. 2007 Feb;39(2):165-7. Epub 2006 Dec 31.

PubMed [citation]
PMID:
17200668
PMCID:
PMC2871593

Details of each submission

From OMIM, SCV000021459.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a North American family with Fanconi anemia, complementation group N (FANCN; 610832), Reid et al. (2007) found a 1-bp deletion, 3116delA (N1039fs), in exon 11 of the PALB2 gene in compound heterozygosity with a premature termination mutation (610355.0003).

In 3 individuals with breast cancer (114480) from separate unrelated families with familial breast cancer, Rahman et al. (2007) found a frameshift mutation in the PALB2 gene: 3116delA, asn1039fs.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 16, 2016