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NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) AND Breast cancer, susceptibility to

Germline classification:
risk factor (1 submission)
Last evaluated:
Feb 28, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000144703.5

Allele description [Variation Report for NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)]

NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
Other names:
PALB2, TRP1038TER (rs180177132); p.W1038*:TGG>TAG; NM_024675.3(PALB2):c.3113G>A; p.Trp1038Ter
HGVS:
  • NC_000016.10:g.23621362C>T
  • NG_007406.1:g.24996G>A
  • NM_024675.4:c.3113G>AMANE SELECT
  • NP_078951.2:p.Trp1038Ter
  • NP_078951.2:p.Trp1038Ter
  • LRG_308t1:c.3113G>A
  • LRG_308:g.24996G>A
  • LRG_308p1:p.Trp1038Ter
  • NC_000016.9:g.23632683C>T
  • NM_024675.3:c.3113G>A
  • p.Trp1038*
  • p.Trp1038Stop
  • p.W1038*
Protein change:
W1038*; TRP1038TER
Links:
OMIM: 610355.0013; dbSNP: rs180177132
NCBI 1000 Genomes Browser:
rs180177132
Molecular consequence:
  • NM_024675.4:c.3113G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Breast cancer, susceptibility to
Identifiers:
MedGen: C3469522

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000190693OMIM
no assertion criteria provided
risk factor
(Feb 28, 2013) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

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

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.

Teo ZL, Park DJ, Provenzano E, Chatfield CA, Odefrey FA, Nguyen-Dumont T; kConFab., Dowty JG, Hopper JL, Winship I, Goldgar DE, Southey MC.

Breast Cancer Res. 2013 Feb 28;15(1):R17. doi: 10.1186/bcr3392.

PubMed [citation]
PMID:
23448497
PMCID:
PMC3672826

Details of each submission

From OMIM, SCV000190693.2

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

Description

In probands from 2 families with breast cancer (114480), Rahman et al. (2007) identified a 3113G-A transition in the PALB2 gene that resulted in a trp1038-to-ter (W1038) amino acid substitution. One proband had been diagnosed at the age of 43 years and had 3 relatives with breast cancer; the other proband had been diagnosed at the age of 49 years and had 4 affected relatives.

In 8 of 747 multiplex breast cancer families from Australia and New Zealand, Teo et al. (2013) identified segregation of the c.3113G-A transition in the PALB2 gene. The median age of diagnosis in those carrying this mutation was 48.5 years, with a range of 32 to 79 years. Teo et al. (2013) identified 2 alternative transcripts in RT-PCR assays of the 3113G-A mutation. One involved the deletion of exon 10 (117 bp; r.2997_3113del, Gly1000_Gly1038del), and the other a 31-bp deletion in exon 10 (r.3083_3113del, Gly1028fsTer3).

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

Last Updated: Nov 10, 2024