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NM_024675.4(PALB2):c.1285delinsTC (p.Ile429fs) AND Familial cancer of breast

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 13, 2019
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:
RCV001030213.2

Allele description [Variation Report for NM_024675.4(PALB2):c.1285delinsTC (p.Ile429fs)]

NM_024675.4(PALB2):c.1285delinsTC (p.Ile429fs)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.1285delinsTC (p.Ile429fs)
HGVS:
  • NC_000016.10:g.23635261delinsGA
  • NG_007406.1:g.11097delinsTC
  • NM_024675.4:c.1285delinsTCMANE SELECT
  • NP_078951.2:p.Ile429fs
  • LRG_308t1:c.1285delinsTC
  • LRG_308:g.11097delinsTC
  • NC_000016.9:g.23646582delinsGA
  • NM_024675.3:c.1285delinsTC
Protein change:
I429fs
Links:
dbSNP: rs1966979701
NCBI 1000 Genomes Browser:
rs1966979701
Molecular consequence:
  • NM_024675.4:c.1285delinsTC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001193085Leiden Open Variation Database
no assertion criteria provided
Uncertain significance
(May 13, 2019) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

A novel PALB2 truncating mutation in an Italian family with male breast cancer.

Vietri MT, Caliendo G, Casamassimi A, Cioffi M, De Paola ML, Napoli C, Molinari AM.

Oncol Rep. 2015 Mar;33(3):1243-7. doi: 10.3892/or.2014.3685. Epub 2014 Dec 22.

PubMed [citation]
PMID:
25529982

Details of each submission

From Leiden Open Variation Database, SCV001193085.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.

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

Last Updated: Sep 8, 2024