ClinVar Genomic variation as it relates to human health
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
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.2167_2168del (p.Met723fs)
Variation ID: 136132 Accession: VCV000136132.56
- Type and length
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Deletion, 2 bp
- Location
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Cytogenetic: 16p12.2 16: 23629986-23629987 (GRCh38) [ NCBI UCSC ] 16: 23641307-23641308 (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 Aug 22, 2014 May 1, 2024 Jan 28, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_024675.4:c.2167_2168del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_078951.2:p.Met723fs frameshift NM_024675.3:c.2167_2168delAT NC_000016.10:g.23629986_23629987del NC_000016.9:g.23641307_23641308del NG_007406.1:g.16371_16372del LRG_308:g.16371_16372del - Protein change
- Other names
- -
- Canonical SPDI
- NC_000016.10:23629985:AT:
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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.
The Genome Aggregation Database (gnomAD) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00006
Exome Aggregation Consortium (ExAC) 0.00007
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
Help
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 |
5836 | 5875 |
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 (6) |
criteria provided, multiple submitters, no conflicts
|
Jan 28, 2024 | RCV000123337.22 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Aug 26, 2022 | RCV000589589.10 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 3, 2018 | RCV000677892.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 3, 2018 | RCV000677893.3 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Nov 21, 2022 | RCV000129400.20 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Jun 21, 2022 | RCV000133478.16 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Oct 2, 2023 | RCV001336119.7 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 30, 2022 | RCV002492445.2 | |
Pathogenic (1) |
no assertion criteria provided
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Jul 1, 2021 | RCV003162563.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 7, 2023 | RCV003315410.2 |
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: SCV000266103.1
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
Comment on evidence:
two primary breast cancers were observed
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Pathogenic
(Mar 03, 2018)
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criteria provided, single submitter
Method: clinical testing
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Neoplasm of the breast
Affected status: yes
Allele origin:
germline
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3DMed Clinical Laboratory Inc
Accession: SCV000804053.1
First in ClinVar: Aug 26, 2018 Last updated: Aug 26, 2018 |
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Pathogenic
(Mar 03, 2018)
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criteria provided, single submitter
Method: clinical testing
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Cancer of the pancreas
Affected status: yes
Allele origin:
germline
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3DMed Clinical Laboratory Inc
Accession: SCV000804054.1
First in ClinVar: Aug 26, 2018 Last updated: Aug 26, 2018 |
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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: SCV001193679.2
First in ClinVar: Apr 06, 2020 Last updated: Apr 06, 2020 |
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Pathogenic
(Oct 26, 2020)
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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: SCV000699555.2
First in ClinVar: Mar 17, 2018 Last updated: Nov 11, 2020 |
Comment:
Variant summary: PALB2 c.2167_2168delAT (p.Met723ValfsX21) 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.2167_2168delAT (p.Met723ValfsX21) 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. The variant allele was found at a frequency of 6.3e-05 in 253056 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in PALB2 causing Hereditary Breast and Ovarian Cancer Syndrome (6.3e-05 vs 0.00016), allowing no conclusion about variant significance. c.2167_2168delAT has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer Syndrome as well as other cancer types (example: Catucci_2014, Kanchi_2014, Antoniou_2014, Nassar_2020). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Eleven ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jul 23, 2019)
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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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Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001450050.1
First in ClinVar: Dec 11, 2020 Last updated: Dec 11, 2020 |
Number of individuals with the variant: 1
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Pathogenic
(Dec 28, 2018)
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criteria provided, single submitter
Method: clinical testing
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Fanconi anemia complementation group N
Affected status: yes
Allele origin:
unknown
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Baylor Genetics
Accession: SCV001529425.1
First in ClinVar: Mar 22, 2021 Last updated: Mar 22, 2021 |
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
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Pathogenic
(-)
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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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Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
Study: CSER-NYCKidSeq
Accession: SCV001984774.1 First in ClinVar: Oct 30, 2021 Last updated: Oct 30, 2021 |
Comment:
This frameshifting variant in exon 5 of 13 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function … (more)
This frameshifting variant in exon 5 of 13 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has been previously reported as a heterozygous change in multiple individuals and families diagnosed with breast or ovarian cancer (PMID:24556926, 27624329, 32566746, 26270727, 33193564, 31263054, 26315354, 25099575) and at least one individual with pancreatic cancer (PMID: 29945567). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.006% (16/251488) and thus is presumed to be rare. Based on the available evidence, the c.2167_2168del (p.Met723ValfsTer21) variant is classified as Pathogenic. (less)
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Pathogenic
(Oct 14, 2021)
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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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MGZ Medical Genetics Center
Accession: SCV002581186.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PVS1, PP1_STR, PM2_SUP
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Number of individuals with the variant: 1
Sex: female
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Pathogenic
(Jan 15, 2016)
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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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Counsyl
Accession: SCV000488150.2
First in ClinVar: Jul 01, 2016 Last updated: Dec 24, 2022 |
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Pathogenic
(Mar 30, 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: SCV002778850.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Jun 21, 2022)
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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: SCV000292651.15
First in ClinVar: Jul 24, 2016 Last updated: Mar 04, 2023 |
Comment:
Frameshift 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; This … (more)
Frameshift 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; This variant is associated with the following publications: (PMID: 30322717, 29945567, 26689913, 32339256, 32566746, 33193564, 25099575, 24556926, 26270727, 24448499, 26845104, 26315354, 28281021, 28724667, 28453507, 29752822, 27624329, 31206626, 31263054, 31447099, 30613976) (less)
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Pathogenic
(Dec 05, 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:
unknown
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Baylor Genetics
Accession: SCV003835783.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
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Pathogenic
(Mar 31, 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: SCV004019682.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
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Pathogenic
(Feb 19, 2021)
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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: SCV000601752.4
First in ClinVar: Sep 28, 2017 Last updated: Jan 06, 2024 |
Comment:
This frameshift variant alters the translational reading frame of the PALB2 mRNA and causes the premature termination of PALB2 protein synthesis. In the published literature, … (more)
This frameshift variant alters the translational reading frame of the PALB2 mRNA and causes the premature termination of PALB2 protein synthesis. In the published literature, the variant has been reported in individuals affected with breast cancer, ovarian cancer, and pancreatic cancer (PMIDs: 32339256 (2020), 31844177 (2020), 31263054 (2019), 31206626 (2019), 30322717 (2018), 29945567 (2018)). The frequency of this variant in the general population, 0.00035 (12/34592 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Oct 02, 2023)
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criteria provided, single submitter
Method: clinical testing
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Fanconi anemia complementation group N
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002016516.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 28, 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: SCV000166650.14
First in ClinVar: Jun 16, 2014 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Met723Valfs*21) 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.Met723Valfs*21) 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 (rs587776416, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 24448499, 24556926, 25099575). ClinVar contains an entry for this variant (Variation ID: 136132). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Aug 26, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000712659.3
First in ClinVar: Apr 09, 2018 Last updated: Apr 20, 2024 |
Comment:
The p.Met723fs variant in PALB2 has been reported in at least 9 individuals with hereditary breast cancer and in 1 individual with ovarian cancer (Antoniou … (more)
The p.Met723fs variant in PALB2 has been reported in at least 9 individuals with hereditary breast cancer and in 1 individual with ovarian cancer (Antoniou 2014, Kanchi 2014, Catucci 2014, Catucci 2016) and segregated with disease in 9 affected relatives (including 2 with other PALB2-associated cancers) from 2 families (Catucci 2016). Additionally, this variant has been identified in 6/11578 of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs587776416). The p.Met723fs variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 723 and leads to a premature termination codon 21 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this variant meets criteria to be classified as pathogenic for hereditary breast cancer in an autosomal dominant manner based upon segregation studies and the predicted impact to the protein. (less)
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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: SCV004015169.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This sequence change creates a premature translational stop signal (p.Met723Valfs*21) 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.Met723Valfs*21) 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 (rs587776416, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 24448499, 24556926, 25099575). ClinVar has an entry for this variant (Variation ID: 136132) with 18 submissions. Therefore, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Nov 21, 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: SCV000685926.5
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant deletes 2 nucleotides in exon 5 of the PALB2 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 2 nucleotides in exon 5 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 20 individuals and families affected with breast and ovarian cancer (PMID: 24448499, 24556926, 26315354, 27624329, 31206626, 32566746). This variant has shown significant association with breast and/or ovarian cancer in the Hispanic population (OR 12.9, 95% CI 3.5 to 51.2) compared to ancestry-matched ExAC control individuals (PMID: 31206626). Haplotype analysis suggests that this may be a founder mutation that arose independently in the Italian and Hispanic populations (PMID: 27624329). This variant has been identified in 16/251488 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 19, 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: SCV000184167.10
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.2167_2168delAT pathogenic mutation, located in coding exon 5 of the PALB2 gene, results from a deletion of two nucleotides at positions 2167 and 2168, … (more)
The c.2167_2168delAT pathogenic mutation, located in coding exon 5 of the PALB2 gene, results from a deletion of two nucleotides at positions 2167 and 2168, causing a translational frameshift with a predicted alternate stop codon (p.M723Vfs*21). This mutation has previously been reported in multiple individuals diagnosed with breast or ovarian cancer (Antoniou AC et al. N. Engl. J. Med. 2014 Aug;371:497-506; Catucci I et al. Genet. Med. 2014 Sep;16:688-94; Kanchi KL et al. Nat Commun. 2014;5:3156; Desmond A et al. JAMA Oncol. 2015 Oct;1:943-51; Sun J et al. Clin. Cancer Res. 2017 Oct 15:23:6113-6119). This mutation has been identified as a founder mutation in Italian, Hispanic and Nigerian populations (Catucci I et al. Cancer Res. Treat. 2016 Nov;160:121-129). 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)
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pathogenic
(-)
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no assertion criteria provided
Method: not provided
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not provided
Affected status: not provided
Allele origin:
germline
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SNPedia
Accession: SCV000188552.1
First in ClinVar: Aug 22, 2014 Last updated: Aug 22, 2014 |
Comment:
Converted during submission to Pathogenic.
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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: SCV001193192.1
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: SCV002758447.1
First in ClinVar: Apr 15, 2023 Last updated: Apr 15, 2023 |
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not provided
(-)
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no classification provided
Method: phenotyping only
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
unknown
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GenomeConnect - Invitae Patient Insights Network
Accession: SCV004228483.1
First in ClinVar: Jan 26, 2024 Last updated: Jan 26, 2024 |
Comment:
Variant interpreted as Pathogenic and reported on 10-08-2015 by Lab Ambry Genetics. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the … (more)
Variant interpreted as Pathogenic and reported on 10-08-2015 by Lab Ambry Genetics. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. (less)
Clinical Features:
Hyperthyroidism (present)
Indication for testing: Diagnostic
Age: 40-49 years
Sex: female
Method: Gene Panel Sequencing
Testing laboratory: Ambry Genetics
Date variant was reported to submitter: 2015-10-08
Testing laboratory interpretation: Pathogenic
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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 |
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 |
Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing. | Zhou J | Cancer | 2020 | PMID: 32339256 |
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma. | Nassar AH | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31844177 |
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 |
Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer. | Petridis C | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2019 | PMID: 31263054 |
Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer. | Weitzel JN | Cancer | 2019 | PMID: 31206626 |
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 |
Germline pathogenic variants identified in women with ovarian tumors. | Carter NJ | Gynecologic oncology | 2018 | PMID: 30322717 |
Pancreatic cancer as a sentinel for hereditary cancer predisposition. | Young EL | BMC cancer | 2018 | PMID: 29945567 |
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 |
Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2. | Catucci I | Breast cancer research and treatment | 2016 | PMID: 27624329 |
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 |
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 |
Breast-cancer risk in families with mutations in PALB2. | Antoniou AC | The New England journal of medicine | 2014 | PMID: 25099575 |
PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo. | Catucci I | Genetics in medicine : official journal of the American College of Medical Genetics | 2014 | PMID: 24556926 |
Integrated analysis of germline and somatic variants in ovarian cancer. | Kanchi KL | Nature communications | 2014 | PMID: 24448499 |
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 |
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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Text-mined citations for rs587776416 ...
HelpRecord last updated May 01, 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.