ClinVar Genomic variation as it relates to human health
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)
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_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)
Variation ID: 52916 Accession: VCV000052916.31
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 13q13.1 13: 32398437 (GRCh38) [ NCBI UCSC ] 13: 32972574 (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 1, 2014 Feb 14, 2024 Apr 22, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000059.4:c.9924C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000050.3:p.Tyr3308Ter nonsense NC_000013.11:g.32398437C>G NC_000013.10:g.32972574C>G NG_012772.3:g.87958C>G LRG_293:g.87958C>G LRG_293t1:c.9924C>G LRG_293p1:p.Tyr3308Ter U43746.1:n.10152C>G - Protein change
- Y3308*
- Other names
- 10152C>G
- Canonical SPDI
- NC_000013.11:32398436:C:G
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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
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
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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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BRCA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
18542 | 18699 |
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
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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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Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Dec 27, 2023 | RCV000045914.31 | |
Pathogenic (5) |
reviewed by expert panel
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Apr 22, 2016 | RCV000077479.18 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Dec 13, 2022 | RCV000131045.20 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Jan 11, 2022 | RCV000221171.16 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 6, 2016 | RCV000768644.10 | |
Pathogenic (1) |
no assertion criteria provided
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- | RCV001354074.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 18, 2023 | RCV003460638.1 |
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
(Apr 22, 2016)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000282474.1
First in ClinVar: Jun 24, 2016 Last updated: Jun 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Aug 11, 2016)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695281.1
First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017 |
Comment:
Variant summary: The BRCA2 9924C>G (p.Tyr3308X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense … (more)
Variant summary: The BRCA2 9924C>G (p.Tyr3308X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Mutation taster predicts a damaging outcome for this variant. This variant was found in 2/121266 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). It was reported in several HBOC patients indicating pathogenicity. Moreover, functional studies demonstrated the variant to result in defective in homologous recombination, compromised, radiation-induced RAD51 foci formation and elevated numbers of chromosomal aberrations further supporting a deleterious impact. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
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Pathogenic
(Feb 06, 2018)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin:
germline
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV000839932.1
First in ClinVar: Nov 05, 2016 Last updated: Nov 05, 2016 |
Comment:
A heterozygous c.9924C>G (p.Y3308*) pathogenic variant in the BRCA2 gene was detected in this individual. This variant has been previously described in multiple individuals with … (more)
A heterozygous c.9924C>G (p.Y3308*) pathogenic variant in the BRCA2 gene was detected in this individual. This variant has been previously described in multiple individuals with breast, colorectal, and ovarian cancer (PMID: 17026620, 22711857). In addition, functional studies have shown that the c.9924C>G (p.Y3308*) variant alters homologous recombination and increases chromosomal aberrations in cells (PMID: 18593900, 18607349). Therefore, we consider this variant to be pathogenic. (less)
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Pathogenic
(Jul 06, 2016)
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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
Study: Canadian Open Genetics Repository
Accession: SCV000219428.4 First in ClinVar: Mar 29, 2015 Last updated: May 06, 2019 |
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Pathogenic
(Mar 18, 2021)
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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: SCV001365600.2
First in ClinVar: Jul 06, 2020 Last updated: May 29, 2021 |
Comment:
The p.Tyr3308X variant in BRCA2 has been reported in at least 16 individuals with hereditary breast/ovarian cancer (HBOC) (Naseem 2006 PMID: 17026620, Alsop 2012 PMID: … (more)
The p.Tyr3308X variant in BRCA2 has been reported in at least 16 individuals with hereditary breast/ovarian cancer (HBOC) (Naseem 2006 PMID: 17026620, Alsop 2012 PMID: 22711857, Rebbeck 2018 PMID: 29446198, LMM data). It has also been identified in 0.002% (2/113582) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant was classified as pathogenic on 06/09/16 by the ClinGen-approved ENIGMA expert panel (ClinVar Variation ID 52916). This nonsense variant leads to a premature termination codon at position 3308. This alteration occurs within the last exon and is, therefore, likely to escape nonsense mediated decay (NMD) and result in a truncated protein. In vitro and in vivo functional studies support that this variant impacts protein function (Hucl 2008 PMID: 18593900, Kuznetsov 2008 PMID: 18607349). Furthermore, another variant resulting in the same premature termination codon (c.9924C>A, p.Tyr3308X) has been identified in individuals with HBOC (Rebbeck 2018 PMID: 29446198). Although the presence of a benign loss-of-function (LOF) variant 18 amino acids downstream of this nonsense variant suggests there is some tolerance to LOF variants at the 3' end of this exon, the available evidence supports that protein truncation at the p.3308 position is disease-causing. In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant hereditary breast/ovarian cancer. ACMG/AMP Criteria applied: PS4, PVS1_Strong, PM2_Supporting, PS3_Supporting. (less)
Number of individuals with the variant: 1
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000328176.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Aug 18, 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: SCV004213662.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Jan 11, 2022)
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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: SCV004220677.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
This nonsense variant alters the translational reading frame of the BRCA2 mRNA and causes the premature termination of BRCA2 protein synthesis. The frequency of this … (more)
This nonsense variant alters the translational reading frame of the BRCA2 mRNA and causes the premature termination of BRCA2 protein synthesis. The frequency of this variant in the general population, 0.000018 (2/113582 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. In the published literature, the variant has been reported in individuals with breast cancer, ovarian cancer, and bladder cancer (PMIDs: 32427313 (2020), 31360904 (2019), 22711857 (2012), 17026620 (2006), 8896551 (1996)). In addition, this variant has been reported to have a damaging effect on BRCA2 protein function (PMIDs: 22678057 (2012), 18593900 (2008), 18607349 (2008)). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Dec 27, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000073927.15
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Tyr3308*) in the BRCA2 gene. While this is not anticipated to result in nonsense mediated decay, … (more)
This sequence change creates a premature translational stop signal (p.Tyr3308*) in the BRCA2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 111 amino acid(s) of the BRCA2 protein. This variant is present in population databases (rs4987049, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with breast cancer, colorectal cancer, and/or ovarian cancer (PMID: 17026620, 22711857). This variant is also known as 10152C>G. ClinVar contains an entry for this variant (Variation ID: 52916). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects BRCA2 function (PMID: 18593900, 18607349). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Dec 14, 2021)
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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: SCV000185975.7
First in ClinVar: Aug 06, 2014 Last updated: Nov 29, 2022 |
Comment:
The p.Y3308* pathogenic mutation (also known as c.9924C>G), located in coding exon 26 of the BRCA2 gene, results from a C to G substitution at … (more)
The p.Y3308* pathogenic mutation (also known as c.9924C>G), located in coding exon 26 of the BRCA2 gene, results from a C to G substitution at nucleotide position 9924. This changes the amino acid from a tyrosine to a stop codon within coding exon 26. This alteration occurs at the 3' terminus of theBRCA2 gene, is not expected to trigger nonsense-mediated mRNA decay, and impacts the last 111 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 alteration has been identified in individuals diagnosed with breast and/or ovarian cancer (Naseem H et al. Clin. Genet. 2006 Nov;70:388-95; Alsop K et al. J Clin Oncol, 2012 Jul;30:2654-63; Palmer JR et al. J Natl Cancer Inst, 2020 12;112:1213-1221). Functional studies have demonstrated that this mutation has reduced cell viability, sensitivity to DNA damaging drugs, and diminished RAD51 focus formation (Kuznetsov SG et al. Nat. Med. 2008 Aug;14:875-81; Hucl T et al. Cancer Res. 2008 Jul;68:5023-30). This alteration is also known as 10152C>G in published literature. 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
(Dec 25, 2021)
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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: SCV000278890.12
First in ClinVar: May 29, 2016 Last updated: Mar 04, 2023 |
Comment:
Nonsense variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Published functional studies demonstrate a … (more)
Nonsense variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Published functional studies demonstrate a damaging effect: sensitivity to DNA damaging agents, reduced homologous repair activity, genomic instability, and decreased RAD51 focus formation (Hucl 2008, Kuznetsov 2008); Observed in several individuals with personal and/or family histories of breast or ovarian cancer (Krainer 1997, Naseem 2006, Waddell 2008, Alsop 2012); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 10152C>G; This variant is associated with the following publications: (PMID: 18607349, 26317927, 27443740, 9145678, 18097605, 20104584, 17026620, 22678057, 14559878, 25639900, 22711857, 18593900, 24323938, 27498558, 18497862, 8896551, 29446198, 30720243, 31447099, 32427313, 30787465, 31360904, 32322110) (less)
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Pathogenic
(Dec 13, 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: SCV000292175.5
First in ClinVar: Jul 08, 2016 Last updated: Feb 14, 2024 |
Comment:
This variant creates a nonsense mutation in exon 27 of the BRCA2 gene, creating a premature translation stop signal that is predicted to truncate the … (more)
This variant creates a nonsense mutation in exon 27 of the BRCA2 gene, creating a premature translation stop signal that is predicted to truncate the TR2/RAD51 binding domain and a nuclear localization signal. This variant is expected to result in a non-functional protein product. Functional studies reported this variant to be abnormal in RAD51 foci formation, sensitivity to DNA damaging agents, and chromosomal aberration assays in complementation of human and mouse BRCA2-deficient cells (PMID: 18593900, 18607349). This variant has also been reported in individuals affected with breast cancer (PMID: 9145678, 17026620, 18497862; Color internal data) and ovarian cancer (PMID: 22711857; Color internal data). This variant has been identified in 2/251252 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Feb 20, 2004)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 2
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000145730.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 4
Observation 2:
Number of individuals with the variant: 1
Geographic origin: Western European
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Latin American, Caribbean, M, P= Jamaica
Observation 4:
Number of individuals with the variant: 5
Ethnicity/Population group: Western European
Observation 5:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Central/Eastern European
Observation 6:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Irish, German
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Pathogenic
(Feb 08, 2013)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 2
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000109277.3
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
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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: SCV001548599.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The BRCA2 p.Tyr3308X variant was identified in 3 of 2250 proband chromosomes (frequency: 0.00133) from individuals and families with breast, ovarian, and colorectal cancer (Naseem … (more)
The BRCA2 p.Tyr3308X variant was identified in 3 of 2250 proband chromosomes (frequency: 0.00133) from individuals and families with breast, ovarian, and colorectal cancer (Naseem 2006 PMID 17026620, Alsop 2012 PMID 22711857, Krainer 1997 PMID 9145678). The variant was also identified in dbSNP (ID: rs4987049) as “With Pathogenic, other allele”, in ClinVar (classified as pathogenic 11x by Ambry, Breast Cancer Information Core, CHEO, Color Genomics, CIMBA, ENIGMA, GeneDx, Invitae, Laboratory Corporation of America, Research Molecular Genetics Laboratory at Women's College Hospital, and SCRP), in Clinvitae (classified as pathogenic), in COGR (classified as pathogenic by CHEO, and likely pathogenic/pathogenic by COGR consensus), in LOVD 3.0, and in ARUP Laboratories (classified as definitely pathogenic). The variant was not identified in Cosmic, MutDB, or Zhejiang University Database. The variant was identified in control databases in 2 of 246006 chromosomes at a frequency of 0.000008 (Genome Aggregation Database Feb 27, 2017). Breakdown of the observations by population include European Non-Finnish in 2 of 111506 chromosomes (freq: 0.000018), while the variant was not observed in the African, Latino, Ashkenazi Jewish, East Asian, Finnish, or South Asian populations. Functional studies on p.Tyr3308X demonstrate that this variant has a deleterious effect (see examples Kuznetsov 2009 PMID 18607349, Hucl 2008 PMID 18593900). Kuznetsov demonstrates that this variant causes reduced cell viability, sensitivity to DNA damaging drugs, defective nonhomologous end joining (Kuznetsov 2009 PMID 18607349). The c.9924C>G variant leads to a premature stop codon at position 3308 which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the BRCA2 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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Pathogenic
(Jan 31, 2014)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000588016.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
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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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Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women. | Palmer JR | Journal of the National Cancer Institute | 2020 | PMID: 32427313 |
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 |
Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers. | Yost S | JNCI cancer spectrum | 2019 | PMID: 31360904 |
High prevalence of cancer-associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering. | Soussi T | Human mutation | 2019 | PMID: 30720243 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Functional assays for analysis of variants of uncertain significance in BRCA2. | Guidugli L | Human mutation | 2014 | PMID: 24323938 |
BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. | Alsop K | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2012 | PMID: 22711857 |
Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay. | Biswas K | Human molecular genetics | 2012 | PMID: 22678057 |
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. | Kuznetsov SG | Nature medicine | 2008 | PMID: 18607349 |
A syngeneic variance library for functional annotation of human variation: application to BRCA2. | Hucl T | Cancer research | 2008 | PMID: 18593900 |
BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression. | Waddell N | PLoS genetics | 2008 | PMID: 18497862 |
Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes. | Naseem H | Clinical genetics | 2006 | PMID: 17026620 |
Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. | Offit K | Journal of the National Cancer Institute | 2003 | PMID: 14559878 |
Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer. | Krainer M | The New England journal of medicine | 1997 | PMID: 9145678 |
A polymorphic stop codon in BRCA2. | Mazoyer S | Nature genetics | 1996 | PMID: 8896551 |
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Text-mined citations for rs4987049 ...
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.