ClinVar Genomic variation as it relates to human health
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
Variation ID: 126729 Accession: VCV000126729.67
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 16p12.2 16: 23607958 (GRCh38) [ NCBI UCSC ] 16: 23619279 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 Feb 14, 2024 Feb 6, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_024675.4:c.3256C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_078951.2:p.Arg1086Ter nonsense NC_000016.10:g.23607958G>A NC_000016.9:g.23619279G>A NG_007406.1:g.38400C>T LRG_308:g.38400C>T LRG_308t1:c.3256C>T LRG_308p1:p.Arg1086Ter - Protein change
- R1086*
- Other names
- p.R1086*:CGA>TGA
- 3256C-T
- Canonical SPDI
- NC_000016.10:23607957:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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PALB2 | - | - |
GRCh38 GRCh37 |
5762 | 5801 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic; risk factor (2) |
no assertion criteria provided
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May 13, 2019 | RCV000114612.15 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Nov 7, 2022 | RCV000160853.21 | |
Pathogenic/Likely pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Jan 21, 2024 | RCV000168017.25 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Feb 6, 2024 | RCV000212825.26 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 25, 2018 | RCV000778458.12 | |
Likely pathogenic (1) |
criteria provided, single submitter
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May 1, 2019 | RCV001030644.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 6, 2022 | RCV002307393.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 12, 2022 | RCV003149788.10 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 27, 2022 | RCV002490767.8 | |
Pathogenic (1) |
no assertion criteria provided
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Jul 1, 2021 | RCV003162531.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 7, 2023 | RCV003315406.8 | |
click to load more click to collapse |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Nov 20, 2015)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: yes
Allele origin:
germline
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University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV000266108.1
First in ClinVar: Mar 20, 2016 Last updated: Mar 20, 2016 |
Number of individuals with the variant: 1
Clinical Features:
breast cancer (present)
Age: 40-49 years
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Pathogenic
(Apr 25, 2018)
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criteria provided, single submitter
Method: clinical testing
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PALB2-Related Disorders
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000914709.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The PALB2 c.3256C>T (p.Arg1086Ter) variant is a stop-gained variant that is predicted to result in premature termination of the protein. Across a selection of the … (more)
The PALB2 c.3256C>T (p.Arg1086Ter) variant is a stop-gained variant that is predicted to result in premature termination of the protein. Across a selection of the available literature, it has been reported in a heterozygous state in at least eleven individuals with cancer, including five with pancreatic cancer, three with breast cancer (one bilateral), and one with ovarian cancer (Jones et al. 2009; Grant et al. 2013; Thompson et al. 2015; Zhen et al. 2015; Norquist et al. 2016; Susswein et al. 2016; Sun et al. 2017). Five of these individuals had a family history of cancer. Although the p.Arg1086Ter variant has not been reported in the literature in individuals with Fanconi anemia, it cannot be ruled out of causing this condition based on allele frequency in consideration of condition penetrance and prevalence estimates. Control data are unavailable for this variant, which is reported at a frequency of 0.000036 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the available evidence, the p.Arg1086Ter variant is classified as pathogenic for PALB2-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Likely pathogenic
(May 01, 2019)
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criteria provided, single submitter
Method: research
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Hereditary breast and ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Cancer Genomics Group, Japanese Foundation For Cancer Research
Accession: SCV001193674.2
First in ClinVar: Apr 06, 2020 Last updated: Apr 06, 2020 |
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Pathogenic
(Oct 06, 2022)
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criteria provided, single submitter
Method: clinical testing
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Malignant tumor of breast
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002600330.1
First in ClinVar: Nov 19, 2022 Last updated: Nov 19, 2022 |
Comment:
Variant summary: PALB2 c.3256C>T (p.Arg1086X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: PALB2 c.3256C>T (p.Arg1086X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 2e-05 in 251482 control chromosomes (gnomAD). c.3256C>T has been reported in the literature in multiple individuals affected with various cancers, including breast/ovarian/pancreas/prostate/colon (e.g. Jones_2009, Grant_2013, Zhen_2015, Decker_2017, Yang_2020, Dorling_2021). The variant was reported in several affected individuals in a family (Grant_2013). Overall, these data indicate that the variant is very likely to be associated with disease. Funcational studies using a cell culture based homologous recombination assay demonstrated that the variant had complete loss of function, with similar activity seen in the empty vector control (Zhang_2021). Eleven ClinVar submitters have assessed the variant since 2014: two classified the variant as likely pathogenic, and nine as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Apr 08, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000538169.6
First in ClinVar: Apr 03, 2017 Last updated: Nov 29, 2022 |
Comment:
The p.R1086* pathogenic mutation (also known as c.3256C>T), located in coding exon 12 of the PALB2 gene, results from a C to T substitution at … (more)
The p.R1086* pathogenic mutation (also known as c.3256C>T), located in coding exon 12 of the PALB2 gene, results from a C to T substitution at nucleotide position 3256. This changes the amino acid from an arginine to a stop codon within coding exon 12. This mutation has been reported in multiple unrelated families with breast, ovarian and pancreatic cancer histories (Jones S et al. Science. 2009 Apr;324:217; Grant RC et al. Hum. Genomics. 2013 Apr;7:11; Zhen DB et al. Genet. Med. 2015 Jul;17:569-77; Norquist BM et al. JAMA Oncol. 2016 Apr;2:482-90; Susswein LR et al. Genet. Med. 2016 Aug;18:823-32; Sun J et al. Clin. Cancer Res. 2017 Oct;23:6113-6119). Another large case-control study identified this alteration in 1/1996 breast cancer cases and 1/1998 non-cancer controls, with the one case having bilateral breast cancer at 44 years of age (Thompson ER et al. Breast Cancer Res. 2015 Aug;17:111; Li JY et al. Int. J. Cancer. 2019 Jan;144(2):281-289). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
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Pathogenic
(Mar 27, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002780634.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Nov 03, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002010960.3
First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023 |
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Pathogenic
(Sep 14, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004188473.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
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Pathogenic
(Jul 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004202161.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(May 02, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV002774367.2
First in ClinVar: Dec 31, 2022 Last updated: Jan 06, 2024 |
Comment:
This nonsense variant causes the premature termination of PALB2 protein synthesis. The frequency of this variant in the general population, 0.000035 (4/113760 chromosomes, http://gnomad.broadinstitute.org), is … (more)
This nonsense variant causes the premature termination of PALB2 protein synthesis. The frequency of this variant in the general population, 0.000035 (4/113760 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. In the published literature, the variant has been reported in individuals with breast cancer (PMID: 26845104 (2016), 28779002 (2017), 29752822 (2018), 30720863 (2019), 31841383 (2020)), ovarian cancer (PMID: 26315354 (2015), 26720728 (2016)), prostate cancer (PMID: 32853339 (2021)), and pancreatic cancer (PMID: 23561644 (2013). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Dec 12, 2022)
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criteria provided, single submitter
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV003838708.2
First in ClinVar: Mar 11, 2023 Last updated: Feb 04, 2024 |
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Pathogenic
(Feb 06, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002551633.6
First in ClinVar: Jul 28, 2022 Last updated: Feb 14, 2024 |
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Pathogenic
(Jan 21, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000218669.12
First in ClinVar: Mar 29, 2015 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Arg1086*) in the PALB2 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Arg1086*) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 17200671, 17200672, 24136930, 25099575). This variant is present in population databases (rs587776527, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with pancreatic cancer (PMID: 19264984, 23561644, 25356972, 26283626, 26315354, 26845104). ClinVar contains an entry for this variant (Variation ID: 126729). RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). For these reasons, this variant has been classified as Pathogenic. (less)
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Likely pathogenic
(Jun 01, 2015)
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criteria provided, single submitter
Method: case-control
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Familial cancer of breast
Cases recruited through familial
(more...)
Affected status: yes
Allele origin:
germline
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Cancer Genetics Laboratory, Peter MacCallum Cancer Centre
Accession: SCV000267973.1
First in ClinVar: May 11, 2016 Last updated: May 11, 2016 |
Number of individuals with the variant: 1
Sex: female
Geographic origin: Australia
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Pathogenic
(Jan 17, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000211531.16
First in ClinVar: Feb 24, 2015 Last updated: Feb 07, 2023 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Jones et al., 2009; Grant et al., 2013; Ramus et al., 2015; Norquist et al., 2016; Zhang et al., 2017); This variant is associated with the following publications: (PMID: 26283626, 26845104, 23935836, 28779002, 29922827, 19264984, 23561644, 25525159, 25356972, 21165770, 26315354, 24870022, 26720728, 26546047, 26681312, 28495237, 28736627, 20888394, 28825143, 29752822, 28724667, 30720863, 31263054, 31768816, 28418444, 31921681, 32068069, 32339256, 34426522, 32546565, 32566746, 30982232, 33169439, 32853339, 31619740, 34113003, 34917121, 33471991, 36278678) (less)
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Pathogenic
(Jan 27, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV003807249.1
First in ClinVar: Mar 04, 2023 Last updated: Mar 04, 2023 |
Comment:
ACMG classification criteria: PVS1 very strong, PS4 strong, PM2 moderated
Observation 1:
Number of individuals with the variant: 1
Geographic origin: Brazil
Method: Paired-end whole-genome sequencing
Observation 2:
Number of individuals with the variant: 1
Geographic origin: Brazil
Method: Paired-end whole-genome sequencing
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Pathogenic
(Jul 07, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 5
Affected status: yes
Allele origin:
unknown
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KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV004015175.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This sequence change creates a premature translational stop signal (p.Arg1086*) in the PALB2 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Arg1086*) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in gnomAD (no frequency). This variant has been reported in individual(s) affected with pancreatic cancer (PMID: 19264984, 23561644, 25356972), breast cancer (PMID: 26283626, 26845104), and ovarian cancer (PMID: 26315354). ClinVar classifies this variant as Pathogenic, rated 2 stars, with 10 submissions, 10 publications (19264984, 23561644, 25356972, 26283626, 26315354 and 5 more) and no conflicts. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 24136930, 25099575). Therefore, this variant has been classified as pathogenic. (less)
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Pathogenic
(Nov 07, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000686021.4
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant changes 1 nucleotide in exon 12 of the PALB2 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 12 of the PALB2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with breast cancer (PMID: 26283626, 28724667, 29752822, 32566746), ovarian cancer (PMID 26720728) and pancreatic cancer (PMID: 19264984, 23561644, 25356972). This variant also has been detected in a breast cancer case-control meta-analysis in 7/60466 cases and 1/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID PALB2_010200). This variant has been identified in 5/251482 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of PALB2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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risk factor
(Apr 10, 2009)
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no assertion criteria provided
Method: literature only
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PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000021464.2
First in ClinVar: Apr 04, 2013 Last updated: Apr 22, 2019 |
Comment on evidence:
In a patient with familial pancreatic cancer (PNCA3; 613348), Jones et al. (2009) identified a heterozygous germline C-to-T transition at nucleotide 3256 in exon 12 … (more)
In a patient with familial pancreatic cancer (PNCA3; 613348), Jones et al. (2009) identified a heterozygous germline C-to-T transition at nucleotide 3256 in exon 12 of the PALB2 gene. (less)
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Pathogenic
(May 13, 2019)
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no assertion criteria provided
Method: curation
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Pancreatic cancer, susceptibility to, 3
Affected status: yes
Allele origin:
germline
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Leiden Open Variation Database
Accession: SCV001193379.1
First in ClinVar: Apr 06, 2020 Last updated: Apr 06, 2020 |
Comment:
Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.
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Pathogenic
(Jul 01, 2021)
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no assertion criteria provided
Method: research
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Gastric cancer
Affected status: unknown
Allele origin:
germline
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Laboratory for Genotyping Development, RIKEN
Accession: SCV002758434.1
First in ClinVar: Apr 15, 2023 Last updated: Apr 15, 2023 |
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Pathogenic
(Jul 21, 2023)
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no assertion criteria provided
Method: research
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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deCODE genetics, Amgen
Accession: SCV004022184.1
First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
Comment:
The variant NM_024675.4:c.3256C>T (chr16:23607958) in PALB2 was detected in 33 heterozygotes out of 58K WGS Icelanders (MAF= 0,028%). Following imputation in a set of 166K … (more)
The variant NM_024675.4:c.3256C>T (chr16:23607958) in PALB2 was detected in 33 heterozygotes out of 58K WGS Icelanders (MAF= 0,028%). Following imputation in a set of 166K Icelanders (71 imputed heterozygotes) we observed an association with breast cancer using 6908 cases and 292623 controls (OR= 5.57, P= 6.93e-05). This variant has been reported in ClinVar previously as pathogenic/likely pathogenic. Based on ACMG criteria (PVS1, PS4, PP5) this variant classifies as pathogenic. (less)
Number of individuals with the variant: 71
Ethnicity/Population group: Icelandic
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer. | Usui Y | The New England journal of medicine | 2023 | PMID: 36988593 |
Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients. | Kwong A | Cancers | 2021 | PMID: 34439348 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response. | Zhang Y | Human mutation | 2021 | PMID: 33169439 |
Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive Prostate Cancer. | Darst BF | Journal of the National Cancer Institute | 2021 | PMID: 32853339 |
Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome. | Kaneyasu T | NPJ breast cancer | 2020 | PMID: 32566746 |
Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients: Clinical Testing with a Multigene Test Panel. | Kwong A | The Journal of molecular diagnostics : JMD | 2020 | PMID: 32068069 |
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. | Yang X | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2020 | PMID: 31841383 |
Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China. | Deng M | International journal of cancer | 2019 | PMID: 30720863 |
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer. | Li JY | International journal of cancer | 2019 | PMID: 29752822 |
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. | Decker B | Journal of medical genetics | 2017 | PMID: 28779002 |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. | Sun J | Clinical cancer research : an official journal of the American Association for Cancer Research | 2017 | PMID: 28724667 |
Improving performance of multigene panels for genomic analysis of cancer predisposition. | Shirts BH | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26845104 |
Inherited Mutations in Women With Ovarian Carcinoma. | Norquist BM | JAMA oncology | 2016 | PMID: 26720728 |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | Susswein LR | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26681312 |
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. | Ramus SJ | Journal of the National Cancer Institute | 2015 | PMID: 26315354 |
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. | Thompson ER | Breast cancer research : BCR | 2015 | PMID: 26283626 |
BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. | Zhen DB | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25356972 |
Breast-cancer risk in families with mutations in PALB2. | Antoniou AC | The New England journal of medicine | 2014 | PMID: 25099575 |
The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer. | Janatova M | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2013 | PMID: 24136930 |
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. | Blanco A | PloS one | 2013 | PMID: 23935836 |
Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. | Grant RC | Human genomics | 2013 | PMID: 23561644 |
PALB2 mutations in German and Russian patients with bilateral breast cancer. | Bogdanova N | Breast cancer research and treatment | 2011 | PMID: 21165770 |
Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. | Jones S | Science (New York, N.Y.) | 2009 | PMID: 19264984 |
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. | Xia B | Nature genetics | 2007 | PMID: 17200672 |
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. | Reid S | Nature genetics | 2007 | PMID: 17200671 |
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. | Rahman N | Nature genetics | 2007 | PMID: 17200668 |
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HelpRecord last updated Apr 15, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.