NM_024675.3(PALB2):c.2205A>G (p.Pro735=) AND Familial cancer of breast

delete

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 16, 2012
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:: RCV000114516.1

Allele description

NM_024675.3(PALB2):c.2205A>G (p.Pro735=)

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.2205A>G (p.Pro735=)

HGVS:

NC_000016.10:g.23629949T>C
NG_007406.1:g.16409A>G
NM_024675.3:c.2205A>G
NP_078951.2:p.Pro735=
LRG_308t1:c.2205A>G
LRG_308:g.16409A>G
LRG_308p1:p.Pro735=
NC_000016.9:g.23641270T>C
p.(=)
r.(?)

Protein change:

Pro735Pro

Links:

PALB2 database: PALB2_10096; dbSNP: rs515726082

NCBI 1000 Genomes Browser:

rs515726082

Molecular consequence:

NM_024675.3:c.2205A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000148462	PALB2 database	no assertion criteria provided	Likely benign (Jul 16, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000148462

PALB2 database

no assertion criteria provided

Likely benign
(Jul 16, 2012)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

Kuusisto KM, Bebel A, Vihinen M, Schleutker J, Sallinen SL.

Breast Cancer Res. 2011 Feb 28;13(1):R20. doi: 10.1186/bcr2832.

PubMed [citation]

PMID:: 21356067
PMCID:: PMC3109589

Details of each submission

From PALB2 database, SCV000148462.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Mar 5, 2020

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