NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) AND Familial cancer of breast

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Feb 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000114486.23

Allele description [Variation Report for NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg)]

NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg)

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.1676A>G (p.Gln559Arg)

Other names:

NP_078951.2:p.Gln559Arg

HGVS:

NC_000016.10:g.23634870T>C
NG_007406.1:g.11488A>G
NM_024675.4:c.1676A>GMANE SELECT
NP_078951.2:p.Gln559Arg
NP_078951.2:p.Gln559Arg
LRG_308t1:c.1676A>G
LRG_308:g.11488A>G
LRG_308p1:p.Gln559Arg
NC_000016.9:g.23646191T>C
NM_024675.3:c.1676A>G
Q86YC2:p.Gln559Arg
p.Q559R

Protein change:

Q559R

Links:

UniProtKB: Q86YC2#VAR_066369; dbSNP: rs152451

NCBI 1000 Genomes Browser:

rs152451

Molecular consequence:

NM_024675.4:c.1676A>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

Recent activity

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parkin coregulated gene protein isoform X3 [Homo sapiens]
parkin coregulated gene protein isoform X3 [Homo sapiens]
gi|2462606100|ref|XP_054210263.1|

Protein
parkin coregulated gene protein isoform X4 [Homo sapiens]
parkin coregulated gene protein isoform X4 [Homo sapiens]
gi|767941947|ref|XP_011533763.1|

Protein
Homo sapiens parkin coregulated (PACRG), transcript variant 1, mRNA
Homo sapiens parkin coregulated (PACRG), transcript variant 1, mRNA
gi|1890335692|ref|NM_152410.3|

Nucleotide
RIKEN cDNA C030048B08 gene [Mus musculus]
RIKEN cDNA C030048B08 gene [Mus musculus]
gi|20810311|gb|AAH29549.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000268003	Cancer Genetics Laboratory, Peter MacCallum Cancer Centre	criteria provided, single submitter (Thompson et al. (Breast Cancer Res. 2015))	Likely benign (Jun 1, 2015)	germline	case-control	PubMed (1) [See all records that cite this PMID]
SCV001000426	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]
SCV001440258	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jan 1, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000268003

Cancer Genetics Laboratory, Peter MacCallum Cancer Centre

criteria provided, single submitter

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

Likely benign
(Jun 1, 2015)

germline

case-control

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

SCV001000426

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]

SCV001440258

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jan 1, 2019)

unknown

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	335	not provided	not provided	1998	not provided	case-control
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	398	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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

See all PubMed Citations (3)

Details of each submission

From Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, SCV000268003.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	398	not provided	not provided	case-control	PubMed (1)
2	not provided	335	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		398	not provided	not provided	not provided
2	germline	no	1998	not provided	not provided		335	not provided	not provided	not provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001000426.6

#	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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001440258.1

#	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	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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