NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) AND Familial cancer of breast

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Feb 1, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000114647.31

Allele description [Variation Report for NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)]

NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)

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.53A>G (p.Lys18Arg)

Other names:

p.K18R:AAG>AGG; NP_078951.2:p.Lys18Arg

HGVS:

NC_000016.10:g.23638125T>C
NG_007406.1:g.8233A>G
NM_024675.4:c.53A>GMANE SELECT
NP_078951.2:p.Lys18Arg
NP_078951.2:p.Lys18Arg
LRG_308t1:c.53A>G
LRG_308:g.8233A>G
LRG_308p1:p.Lys18Arg
NC_000016.9:g.23649446T>C
NM_024675.3:c.53A>G
p.K18R

Protein change:

K18R

Links:

dbSNP: rs138789658

NCBI 1000 Genomes Browser:

rs138789658

Molecular consequence:

NM_024675.4:c.53A>G - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000207346	Pathway Genomics	no assertion criteria provided	Benign (Nov 6, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18288683, 21932393 http://evs.gs.washington.edu/EVS/; http://www.1000genomes.org/,
SCV000261906	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000267978	Cancer Genetics Laboratory, Peter MacCallum Cancer Centre	criteria provided, single submitter (Thompson et al. (Breast Cancer Res. 2015))	Uncertain significance (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

SCV000207346

Pathway Genomics

no assertion criteria provided

Benign
(Nov 6, 2014)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

http://evs.gs.washington.edu/EVS/; http://www.1000genomes.org/,

SCV000261906

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 1, 2024)

germline

clinical testing

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

SCV000267978

Cancer Genetics Laboratory, Peter MacCallum Cancer Centre

criteria provided, single submitter

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

Uncertain significance
(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	no	1	not provided	not provided	1998	not provided	case-control
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer.

Tischkowitz M, Sabbaghian N, Ray AM, Lange EM, Foulkes WD, Cooney KA.

Prostate. 2008 May 1;68(6):675-8. doi: 10.1002/pros.20729.

PubMed [citation]

PMID:: 18288683
PMCID:: PMC2683627

Novel germline PALB2 truncating mutations in African American breast cancer patients.

Zheng Y, Zhang J, Niu Q, Huo D, Olopade OI.

Cancer. 2012 Mar 1;118(5):1362-70. doi: 10.1002/cncr.26388. Epub 2011 Aug 26.

PubMed [citation]

PMID:: 21932393
PMCID:: PMC3244533

See all PubMed Citations (4)

Details of each submission

From Pathway Genomics, SCV000207346.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000261906.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

From Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, SCV000267978.1

#	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	no	1998	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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