NM_024675.4(PALB2):c.577dup (p.Thr193fs) AND Familial cancer of breast

Clinical significance:Likely pathogenic (Last evaluated: Jun 1, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211071.1

Allele description [Variation Report for NM_024675.4(PALB2):c.577dup (p.Thr193fs)]

NM_024675.4(PALB2):c.577dup (p.Thr193fs)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.577dup (p.Thr193fs)
HGVS:
  • NC_000016.10:g.23635970dup
  • NG_007406.1:g.10389dup
  • NM_024675.4:c.577dupMANE SELECT
  • NP_078951.2:p.Thr193fs
  • LRG_308:g.10389dup
  • NC_000016.9:g.23647291dup
  • NM_024675.3:c.577dupA
Protein change:
T193fs
Links:
dbSNP: rs875989790
NCBI 1000 Genomes Browser:
rs875989790
Molecular consequence:
  • NM_024675.4:c.577dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; CHEK2-Related 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
SCV000267961Cancer Genetics Laboratory,Peter MacCallum Cancer Centrecriteria provided, single submitter
Likely pathogenic
(Jun 1, 2015)
germlinecase-control

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1996not providedcase-control

Citations

PubMed

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

Thompson ER, Gorringe KL, Rowley SM, Wong-Brown MW, McInerny S, Li N, Trainer AH, Devereux L, Doyle MA, Li J, Lupat R, Delatycki MB; LifePool Investigators., Mitchell G, James PA, Scott RJ, Campbell IG.

Breast Cancer Res. 2015 Aug 19;17:111. doi: 10.1186/s13058-015-0627-7.

PubMed [citation]
PMID:
26283626
PMCID:
PMC4539664

Details of each submission

From Cancer Genetics Laboratory,Peter MacCallum Cancer Centre, SCV000267961.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1996not providednot provided1not providednot providednot provided

Last Updated: Oct 25, 2021

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