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NM_024675.4(PALB2):c.2996+58T>C AND Familial cancer of breast

Germline classification:
Likely benign (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:
RCV001030361.2

Allele description [Variation Report for NM_024675.4(PALB2):c.2996+58T>C]

NM_024675.4(PALB2):c.2996+58T>C

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.2996+58T>C
HGVS:
  • NC_000016.10:g.23622911A>G
  • NG_007406.1:g.23447T>C
  • NM_024675.4:c.2996+58T>CMANE SELECT
  • LRG_308t1:c.2996+58T>C
  • LRG_308:g.23447T>C
  • NC_000016.9:g.23634232A>G
  • NM_024675.3:c.2996+58T>C
Links:
dbSNP: rs180177129
NCBI 1000 Genomes Browser:
rs180177129
Molecular consequence:
  • NM_024675.4:c.2996+58T>C - intron variant - [Sequence Ontology: SO:0001627]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001193322Leiden Open Variation Database
no assertion criteria provided
Likely benign
(May 13, 2019)
germlinecuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

A novel germline PALB2 deletion in Polish breast and ovarian cancer patients.

Dansonka-Mieszkowska A, Kluska A, Moes J, Dabrowska M, Nowakowska D, Niwinska A, Derlatka P, Cendrowski K, Kupryjanczyk J.

BMC Med Genet. 2010 Feb 2;11:20. doi: 10.1186/1471-2350-11-20.

PubMed [citation]
PMID:
20122277
PMCID:
PMC2829009

Details of each submission

From Leiden Open Variation Database, SCV001193322.1

#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