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NM_024675.3(PALB2):c.-145G>C AND Familial cancer of breast

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 8, 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:
RCV000114438.1

Allele description

NM_024675.3(PALB2):c.-145G>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_024675.3(PALB2):c.-145G>C
HGVS:
  • NC_000016.10:g.23641302C>G
  • NG_007406.1:g.5056G>C
  • NM_024675.3:c.-145G>C
  • LRG_308t1:c.-145G>C
  • LRG_308:g.5056G>C
  • NC_000016.9:g.23652623C>G
  • p.(=)
  • r.(?)
Links:
PALB2 database: PALB2_10204; dbSNP: rs373698818
NCBI 1000 Genomes Browser:
rs373698818
Molecular consequence:
  • NM_024675.3:c.-145G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
CHEK2-Related Breast Cancer
Identifiers:
MedGen: C0006142; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000148384PALB2 database
no assertion criteria provided
Likely benign
(Sep 8, 2013) 		unknownliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer.

Wong-Brown MW, Avery-Kiejda KA, Bowden NA, Scott RJ.

Int J Cancer. 2014 Jan 15;134(2):301-5. doi: 10.1002/ijc.28361. Epub 2013 Sep 23.

PubMed [citation]
PMID:
23824750

Details of each submission

From PALB2 database, SCV000148384.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2020