NM_024675.3(PALB2):c.1592delT (p.Leu531Cysfs) AND Breast cancer, susceptibility to

Clinical significance:risk factor (Last evaluated: Mar 15, 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:
RCV000001310.2

Allele description [Variation Report for NM_024675.3(PALB2):c.1592delT (p.Leu531Cysfs)]

NM_024675.3(PALB2):c.1592delT (p.Leu531Cysfs)

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.1592delT (p.Leu531Cysfs)
HGVS:
  • NC_000016.10:g.23634954delA
  • NG_007406.1:g.11404delT
  • NM_024675.3:c.1592delT
  • NP_078951.2:p.Leu531Cysfs
  • LRG_308t1:c.1592delT
  • LRG_308:g.11404delT
  • LRG_308p1:p.Leu531Cysfs
  • NC_000016.9:g.23646275delA
  • p.(Leu531Cysfs*30)
  • p.L531CFS*30
  • p.L531CfsX30
  • r.(?)
Links:
PALB2 database: PALB2_10077; OMIM: 610355.0006; dbSNP: 180177102
NCBI 1000 Genomes Browser:
rs180177102
Allele Frequency:
NaN
Molecular consequence:
  • NM_024675.3:c.1592delT - 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 https://www.ncbi.nlm.nih.gov/books/NBK1247

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021460OMIMno assertion criteria providedrisk factor
(Mar 15, 2007)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot 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

Details of each submission

From OMIM, SCV000021460.1

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

Description

Erkko et al. (2007) screened probands from 113 BRCA1/BRCA2 mutation-negative breast or breast-ovarian cancer (114480) families from northern Finland. A 1-bp deletion of thymidine at nucleotide 1592 of the PALB2 coding sequence was detected in 3 probands but only in 6 of 2,501 controls, giving an odds ratio of 11.3 and a 95% confidence interval of 1.8 to 57.8. The alteration should result in frameshift at leu531, with the new open reading frame progressing for 28 codons before termination. The mutation was also found in 18 of 1,918 Finnish unselected breast cancer cases (odds ratio of 3.94, 95% CI 1.5-12.1).

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

Last Updated: Mar 18, 2017