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

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 1, 2015
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000211071.2

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; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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PREDICTED: Homo sapiens capicua transcriptional repressor (CIC), transcript vari...
PREDICTED: Homo sapiens capicua transcriptional repressor (CIC), transcript variant X7, mRNA
gi|2217320193|ref|XM_011526665.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267961	Cancer Genetics Laboratory, Peter MacCallum Cancer Centre	criteria provided, single submitter (Thompson et al. (Breast Cancer Res. 2015))	Likely pathogenic (Jun 1, 2015)	germline	case-control	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267961

Cancer Genetics Laboratory, Peter MacCallum Cancer Centre

criteria provided, single submitter

(Thompson et al. (Breast Cancer Res. 2015))

Likely pathogenic
(Jun 1, 2015)

germline

case-control

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1996	not provided	case-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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	case-control	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1996	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 8, 2024

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