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NM_024675.4(PALB2):c.3114-3511_3201+191del AND Familial cancer of breast

Germline classification:
Pathogenic (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:
RCV001030384.2

Allele description [Variation Report for NM_024675.4(PALB2):c.3114-3511_3201+191del]

NM_024675.4(PALB2):c.3114-3511_3201+191del

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.3114-3511_3201+191del
HGVS:
  • NC_000016.10:g.23613814_23617603del
  • NG_007406.1:g.28756_32545del
  • NM_024675.4:c.3114-3511_3201+191delMANE SELECT
  • LRG_308t1:c.3114-3511_3201+191del
  • LRG_308:g.28756_32545del
  • NC_000016.9:g.23625134_23628923del
  • NC_000016.9:g.23625135_23628924del
  • NM_024675.3:c.3114-3511_3201+191del
Molecular consequence:
  • NM_024675.4:c.3114-3511_3201+191del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_024675.4:c.3114-3511_3201+191del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV001193352Leiden Open Variation Database
no assertion criteria provided
Pathogenic
(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

Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant.

Schrader KA, Stratton KL, Murali R, Laitman Y, Cavallone L, Offit L, Wen YH, Thomas T, Shah S, Rau-Murthy R, Manschreck C, Salo-Mullen E, Otegbeye E, Corines M, Zhang L, Norton L, Hudis C, Klein RJ, Kauff ND, Robson M, Stadler ZK, Haber DA, et al.

J Clin Oncol. 2016 Mar 10;34(8):e61-7. doi: 10.1200/JCO.2013.50.0272. Epub 2014 Jun 30. No abstract available.

PubMed [citation]
PMID:
24982446

Details of each submission

From Leiden Open Variation Database, SCV001193352.1

#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