ClinVar Genomic variation as it relates to human health
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
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.3362del (p.Gly1121fs)
Variation ID: 126739 Accession: VCV000126739.41
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 16p12.2 16: 23603658 (GRCh38) [ NCBI UCSC ] 16: 23614979 (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 Oct 11, 2015 Apr 20, 2024 Apr 5, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_024675.4:c.3362del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_078951.2:p.Gly1121fs frameshift NM_024675.3:c.3362delG NC_000016.10:g.23603659del NC_000016.9:g.23614980del NG_007406.1:g.42700del LRG_308:g.42700del - Protein change
- Other names
- NM_024675.3(PALB2):c.3362del
- p.Gly1121fs
- Canonical SPDI
- NC_000016.10:23603657:CC:C
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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
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The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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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
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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 |
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Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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
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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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Likely pathogenic (9) |
reviewed by expert panel
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Apr 5, 2023 | RCV000114624.28 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Dec 14, 2022 | RCV000130740.12 | |
Pathogenic/Likely pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Jul 27, 2023 | RCV000235614.17 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 25, 2019 | RCV001193463.2 | |
Pathogenic (1) |
no assertion criteria provided
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- | RCV001355561.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 30, 2020 | RCV001798300.3 |
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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Likely pathogenic
(Apr 05, 2023)
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reviewed by expert panel
Method: curation
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Familial cancer of breast
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen
Accession: SCV003915567.1
First in ClinVar: Apr 15, 2023 Last updated: Apr 15, 2023 |
Comment:
The c.3362del (p.Gly1121fs) variant in PALB2 is a frameshift variant that may cause a premature stop codon that is predicted to escape nonsense mediated decay; … (more)
The c.3362del (p.Gly1121fs) variant in PALB2 is a frameshift variant that may cause a premature stop codon that is predicted to escape nonsense mediated decay; however, it is a truncation of a functionally important region (removes amino acids 1123-1187) in a gene where loss-of-function is an established disease mechanism. This alteration results in a termination codon upstream of the most C-terminal pathogenic alteration (PALB2 p.Tyr1183*) as classified by the HBOP VCEP, and is expected to be more deleterious. This variant has a minor allele frequency in gnomAD v2.1.1 of 0.000003979 in the non-Finnish European population (PM2_Supporting, BS1, and BA1 are not met). In summary, this variant meets criteria to be classified likely pathogenic for autosomal dominant hereditary breast and pancreatic cancer and autosomal recessive FANCN based on the ACMG/AMP criteria applied as specified by the HBOP VCEP. (PVS1, PM5_Supporting) (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, no
Allele origin:
germline
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Cancer Genetics Laboratory, Peter MacCallum Cancer Centre
Accession: SCV000267974.1
First in ClinVar: May 11, 2016 Last updated: May 11, 2016 |
Observation 1:
Number of individuals with the variant: 1
Sex: female
Geographic origin: Australia
Observation 2:
Number of individuals with the variant: 1
Sex: female
Geographic origin: Australia
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Pathogenic
(Jan 25, 2019)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001362312.1
First in ClinVar: Jun 22, 2020 Last updated: Jun 22, 2020 |
Comment:
Variant summary: PALB2 c.3362delG (p.Gly1121ValfsX3) 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.3362delG (p.Gly1121ValfsX3) 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 or disruption of a domain important for PALB2 protein function, which are commonly known mechanisms for disease. The variant disrupts the Partner and localiser of BRCA2, WD40 domain which is involved in BRCA2 binding. A truncations downstream of this position has been classified as pathogenic by our laboratory (eg. p.Tyr1183X). The variant allele was found at a frequency of 4.1e-06 in 246142 control chromosomes. c.3362delG has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Blanco_2013, Couch_2016, Janatova_2013, Thompson_2015). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Mar 30, 2020)
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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: SCV002043601.1
First in ClinVar: Jan 01, 2022 Last updated: Jan 01, 2022 |
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Pathogenic
(Nov 24, 2017)
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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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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888374.2
First in ClinVar: Mar 13, 2019 Last updated: Jan 01, 2022 |
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Pathogenic
(Feb 23, 2022)
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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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Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
Accession: SCV002499076.1
First in ClinVar: Apr 16, 2022 Last updated: Apr 16, 2022 |
Comment:
PVS1, PS3, PM2
Secondary finding: yes
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Likely 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: SCV002010958.3
First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023 |
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Pathogenic
(Jul 27, 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: SCV000292661.15
First in ClinVar: Jul 24, 2016 Last updated: Aug 05, 2023 |
Comment:
Published functional studies demonstrate a damaging effect: significantly reduced homology directed DNA repair functionality (Wiltshire et al., 2020); Frameshift variant predicted to result in protein … (more)
Published functional studies demonstrate a damaging effect: significantly reduced homology directed DNA repair functionality (Wiltshire et al., 2020); Frameshift variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24870022, 29280214, 29431189, 29922827, 24136930, 25452441, 25099575, 24549055, 26283626, 28454591, 31447099, 32338768, 32853339, 34399810, 33804961, 23935836, 31636395) (less)
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Pathogenic
(Sep 15, 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: SCV004188485.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
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Pathogenic
(Aug 25, 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: SCV004202114.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Dec 14, 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: SCV000690914.5
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant deletes 1 nucleotide in exon 13 of the PALB2 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 1 nucleotide in exon 13 of the PALB2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in at least eight individuals affected with breast, ovarian and pancreatic cancer (PMID: 23935836, 24136930, 24549055, 25452441, 29431189, Color internal data). This variant has been identified in 1/251320 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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Pathogenic
(Jan 27, 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: SCV000219007.14
First in ClinVar: Mar 29, 2015 Last updated: Feb 28, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Gly1121Valfs*3) in the PALB2 gene. While this is not anticipated to result in nonsense mediated decay, … (more)
This sequence change creates a premature translational stop signal (p.Gly1121Valfs*3) in the PALB2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acid(s) of the PALB2 protein. This variant is present in population databases (rs515726117, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 23935836, 24136930, 24549055, 25099575, 26283626; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 126739). This variant disrupts a region of the PALB2 protein in which other variant(s) (p.Leu1143Thrfs*14 and p.Tyr1183*) have been determined to be pathogenic (PMID: 17200668, 17200671, 21365267, 25099575, 25452441, 26315354; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
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Likely Pathogenic
(Mar 23, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004848615.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
The p.Gly1121ValfsX3 variant in PALB2 has been reported in at least 8 individuals with breast cancer, including 2 siblings with a family history of PALB2-associated … (more)
The p.Gly1121ValfsX3 variant in PALB2 has been reported in at least 8 individuals with breast cancer, including 2 siblings with a family history of PALB2-associated cancers (Blanco 2013 PMID: 23935836, Janatova 2013 PMID: 24136930, Castera 2014 PMID: 24549055, Antoniou 2014 PMID: 25099575, Thompson 2015 PMID: 26283626, Couch 2015 PMID: 25452441, Lee 2018 PMID: 29431189) and has also been reported by other clinical laboratories in ClinVar (Variation ID 126739). It was identified in 0.001% (1/67996) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.3.1). This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1121 and leads to a premature termination codon 3 amino acids downstream. This alteration occurs within the last exon and is, therefore, likely to escape nonsense mediated decay (NMD) and result in a truncated protein that is missing ~5% of the coding region, with 62 amino acids removed. However, these terminal amino acids are part of the functionally critical WD40 domain that is necessary for PALB2 function, stability, and interaction with BRCA2 (Oliver 2009 PMID: 19609323). In addition, several downstream truncating variants, have been observed in individuals with PALB2-related cancers and Fanconi anemia, supporting the functional importance of the last exon. In summary, this variant meets criteria to be classified as likely pathogenic for autosomal dominant PALB2-associated breast cancer. ACMG/AMP Criteria applied: PS4_Moderate, PM2_Supporting, PVS1_Strong. (less)
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Pathogenic
(Jan 01, 2019)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001440263.1
First in ClinVar: Oct 30, 2020 Last updated: Oct 30, 2020 |
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Pathogenic
(Dec 08, 2020)
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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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Genetic Services Laboratory, University of Chicago
Accession: SCV002069651.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
Comment:
DNA sequence analysis of the PALB2 gene demonstrated a single base pair deletion in exon 13, c.3362del. This sequence change is predicted to result in … (more)
DNA sequence analysis of the PALB2 gene demonstrated a single base pair deletion in exon 13, c.3362del. This sequence change is predicted to result in an amino acid frameshift and the creation of a premature stop codon 2 amino acids downstream of the mutation, p.Gly1121Valfs*3. Although this sequence change is located in the last exon of the PALB2 gene, another truncating variant downstream of the p.Gly1121Valfs*3 change, p.Tyr1183*, has been described in individuals with PALB2-related disorders and has been classified as pathogenic (PMID: 17200668, 17200671, 21365267, 25099575, 25452441, 26315354). The p.Gly1121Valfs*3 change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated PALB2 protein with potentially abnormal function. This sequence change has been described in the gnomAD database in one individual with an overall population frequency of 0.0004% (dbSNP rs515726117). The p.Gly1121Valfs*3 change has been described in several individuals with breast cancer (PMIDs: 23935836, 26283626, 24136930, 24549055, 25099575, 26283626). This sequence change is located in the WD40-repeat domain of the PALB2 protein, which is known to be involved in binding with BRCA2 (PMIDs: 16793542, 19423707). These collective evidences suggest that this sequence change is pathogenic. (less)
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Pathogenic
(Jan 24, 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: SCV000185631.9
First in ClinVar: Aug 06, 2014 Last updated: Nov 29, 2022 |
Comment:
The c.3362delG pathogenic mutation, located in coding exon 13 of the PALB2 gene, results from a deletion of one nucleotide at nucleotide position 3362, causing … (more)
The c.3362delG pathogenic mutation, located in coding exon 13 of the PALB2 gene, results from a deletion of one nucleotide at nucleotide position 3362, causing a translational frameshift with a predicted alternate stop codon (p.G1121Vfs*3). This alteration occurs at the 3' terminus of thePALB2 gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 66 amino acids of the protein. However, premature stop codons are typically deleterious in nature and the impacted region is critical for protein function (Ambry internal data). This mutation has been previously reported in numerous kindreds characterized by early-onset breast cancer, triple negative breast cancer, prostate and/or pancreatic cancer (Blanco A at al. PLoS ONE. 2013 Jul;8:e67538; Janatova M et al. Cancer Epidemiol. Biomarkers Prev. 2013 Dec;22:2323-32; Antoniou AC et al. N. Engl. J. Med. 2014 Aug;371:497-506; Castéra L et al. Eur. J. Hum. Genet. 2014 Nov;22:1305-13; Couch FJ et al. J. Clin. Oncol. 2015 Feb;33:304-11; Thompson ER et al. Breast Cancer Res. 2015 Aug;17:111; Thompson ER et al. J Clin Oncol, 2016 May;34:1455-9; Lee JEA et al. J. Pathol. 2018 May;245(1):53-60; Nguyen-Dumont T et al. Int J Cancer, 2020 10;147:2142-2149). This alteration was found to be functionally abnormal in a homology-directed DNA repair (HDR) assay (Wiltshire T et al. Genet Med, 2020 03;22:622-632). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
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Pathogenic
(May 13, 2019)
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no assertion criteria provided
Method: curation
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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Leiden Open Variation Database
Accession: SCV001193402.1
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
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001550483.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The PALB2 p.Gly1121Valfs*3 variant was identified in 7 of 9236 proband chromosomes (frequency: 0.0008) from individuals or families with hereditary breast and ovarian cancer or … (more)
The PALB2 p.Gly1121Valfs*3 variant was identified in 7 of 9236 proband chromosomes (frequency: 0.0008) from individuals or families with hereditary breast and ovarian cancer or pancreatic cancer (Antoniou 2014, Blanco 2013, Castera 2014, Couch 2015, Thompson 2015, Janatova 2013, Johns 2017). The variant was identified in dbSNP (ID: rs515726117 as “With Pathogenic allele”), ClinVar (5x as pathogenic by Ambry Genetics, Invitae, GeneDx, Color Genomics and PALB2 database and 1x as likely pathogenic by Peter MacCallum Cancer Centre), and LOVD 3.0 Database (5x). The variant was not identified in Cosmic, MutDB, or the Zhejiang University Database. The variant was identified in control databases in 1 of 246142 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the European (Non-Finnish) population in 1 of 111636 chromosomes (freq: 0.000009), but not in the other populations. The p.Gly1121Valfs*3 variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1121 and leads to a premature stop codon at position 1123. This alteration is predicted to result in a truncated protein and loss of function. Loss of function variants of the PALB2 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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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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Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants. | Murali K | Hereditary cancer in clinical practice | 2021 | PMID: 34399810 |
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 |
Rare germline genetic variants and risk of aggressive prostate cancer. | Nguyen-Dumont T | International journal of cancer | 2020 | PMID: 32338768 |
Functional characterization of 84 PALB2 variants of uncertain significance. | Wiltshire T | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31636395 |
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. | eMERGE Consortium. Electronic address: agibbs@bcm.edu | American journal of human genetics | 2019 | PMID: 31447099 |
Molecular analysis of PALB2-associated breast cancers. | Lee JEA | The Journal of pathology | 2018 | PMID: 29431189 |
Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. | Thompson ER | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2016 | PMID: 26786923 |
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 |
Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic. | Janatova M | PloS one | 2015 | PMID: 26057125 |
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. | Couch FJ | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2015 | PMID: 25452441 |
Breast-cancer risk in families with mutations in PALB2. | Antoniou AC | The New England journal of medicine | 2014 | PMID: 25099575 |
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. | Castéra L | European journal of human genetics : EJHG | 2014 | PMID: 24549055 |
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 |
PALB2 mutations in familial breast and pancreatic cancer. | Hofstatter EW | Familial cancer | 2011 | PMID: 21365267 |
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 |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/d8eca774-205b-4826-8339-70e62b4579eb | - | - | - | - |
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Text-mined citations for rs515726117 ...
HelpRecord last updated Apr 20, 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.