ClinVar Genomic variation as it relates to human health
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
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.
Uncertain significance(7); Benign(1); Likely benign(5)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
Variation ID: 141335 Accession: VCV000141335.52
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 13q13.1 13: 32357883 (GRCh38) [ NCBI UCSC ] 13: 32932020 (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 Jan 6, 2017 May 1, 2024 Feb 8, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000059.4:c.7759C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000050.3:p.Leu2587Phe missense NC_000013.11:g.32357883C>T NC_000013.10:g.32932020C>T NG_012772.3:g.47404C>T LRG_293:g.47404C>T LRG_293t1:c.7759C>T LRG_293p1:p.Leu2587Phe - Protein change
- L2587F
- Other names
- p.L2587F:CTC>TTC
- NP_000050.3:p.Leu2587Phe
- Canonical SPDI
- NC_000013.11:32357882:C:T
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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) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00004
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
18726 | 18884 |
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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Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
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Feb 10, 2022 | RCV000129817.14 | |
Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
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Aug 15, 2023 | RCV000160141.24 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
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Jan 18, 2024 | RCV000229398.13 | |
Uncertain significance (3) |
criteria provided, single submitter
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Dec 1, 2015 | RCV000411503.5 | |
no classifications from unflagged records (1) |
no classifications from unflagged records
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Nov 7, 2023 | RCV000416750.4 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
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Mar 15, 2023 | RCV000587564.8 | |
Uncertain significance (1) |
criteria provided, single submitter
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Feb 8, 2024 | RCV004544292.1 |
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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Uncertain significance
(Jul 28, 2016)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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Department of Pathology and Laboratory Medicine, Sinai Health System
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000592140.1 First in ClinVar: Aug 27, 2017 Last updated: Aug 27, 2017 |
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Uncertain significance
(Dec 31, 2018)
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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: SCV000210446.14
First in ClinVar: Feb 24, 2015 Last updated: Apr 17, 2019 |
Comment:
This variant is denoted BRCA2 c.7759C>T at the cDNA level, p.Leu2587Phe (L2587F) at the protein level, and results in the change of a Leucine to … (more)
This variant is denoted BRCA2 c.7759C>T at the cDNA level, p.Leu2587Phe (L2587F) at the protein level, and results in the change of a Leucine to a Phenylalanine (CTC>TTC). Using alternate nomenclature, this variant would be defined as BRCA2 7987C>T. This variant was observed in several individuals with a personal and family history of colorectal cancer as well as two individuals with a personal and/or family history of breast and/or ovarian cancer (Infante 2006, Garre 2015, Esteban-Jurado 2016, Zutini 2018). BRCA2 Leu2587Phe was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the DNA binding domain (Yang 2002). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA2 Leu2587Phe is a pathogenic or benign variant. We consider it to be a variant of uncertain significance. (less)
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Uncertain significance
(May 21, 2019)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001160597.1
First in ClinVar: Feb 10, 2020 Last updated: Feb 10, 2020 |
Comment:
The BRCA2 c.7759C>T; p.Leu2587Phe variant (rs56335340), also known as 7987C>T, is reported in the literature in individuals affected with breast and/or ovarian cancer (Infante 2006, … (more)
The BRCA2 c.7759C>T; p.Leu2587Phe variant (rs56335340), also known as 7987C>T, is reported in the literature in individuals affected with breast and/or ovarian cancer (Infante 2006, Velasco 2005, Zuntini 2018) and colorectal cancer (Esteban-Jurado 2016, Garre 2015). This variant is reported as uncertain by multiple laboratories in ClinVar (Variation ID: 141335), and is found in the general population with an overall allele frequency of 0.0044% (11/251436 alleles) in the Genome Aggregation Database. The leucine at codon 2587 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Leu2587Phe variant is uncertain at this time. References: Esteban-Jurado C et al. The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. Eur J Hum Genet. 2016 Oct;24(10):1501-5. Garre P et al. BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X. Clin Genet. 2015 Jun;87(6):582-7. Infante M et al. High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-Leon (central Spain). J Hum Genet. 2006;51(7):611-7. Velasco E et al. Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis. Electrophoresis. 2005 Jun;26(13):2539-52. Zuntini R et al. Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help? Front Genet. 2018 Sep 11;9:378. (less)
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Benign
(Nov 16, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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National Health Laboratory Service, Universitas Academic Hospital and University of the Free State
Accession: SCV002025827.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 1
Geographic origin: South Africa
Testing laboratory: National Health Laboratory Service (NHLS)
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Uncertain significance
(Feb 10, 2022)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002531881.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The BRCA2 c.7759C>T (p.L2587F) variant has been reported in heterozygosity in at least 3 individuals with breast cancer ovarian cancer or colorectal cancer (PMID: 24814045 … (more)
The BRCA2 c.7759C>T (p.L2587F) variant has been reported in heterozygosity in at least 3 individuals with breast cancer ovarian cancer or colorectal cancer (PMID: 24814045 15937982 28223274). It has been reported in a large case-control study of breast cancer in 8/60466 cases and 5/53461 controls (PMID: 33471991). A homology directed repair study demonstrated the normal function of the protein (PMID: 29394989). It was observed in 9/113728 chromosomes of the Non-Finnish European (NFE) subpopulation in the large and broad cohorts of the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654). This variant has been reported in ClinVar (Variation ID 141335). In silico tools suggest the impact of the variant on protein function is deleterious, though these predictions have not been confirmed by functional studies. The evidence is insufficient to meet ACMG/AMP criteria for classifying the variant as benign or pathogenic. Thus, the clinical significance of this variant is currently uncertain. (less)
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Uncertain significance
(Dec 01, 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:
unknown
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Counsyl
Accession: SCV000487796.2
First in ClinVar: Jan 06, 2017 Last updated: Dec 24, 2022 |
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Likely benign
(May 18, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695100.5
First in ClinVar: Mar 17, 2018 Last updated: Jun 24, 2023 |
Comment:
Variant summary: BRCA2 c.7759C>T (p.Leu2587Phe) results in a non-conservative amino acid change located in the Breast cancer type 2 susceptibility protein, helical domain of the … (more)
Variant summary: BRCA2 c.7759C>T (p.Leu2587Phe) results in a non-conservative amino acid change located in the Breast cancer type 2 susceptibility protein, helical domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.4e-05 in 251514 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast And Ovarian Cancer Syndrome (4.4e-05 vs 0.00075), allowing no conclusion about variant significance. c.7759C>T has been reported in the literature in individuals undergoing evaluation for breast/colorectal cancer (example, Velasco_2005, Garre_2014, Tsai_2019). Some of these reports classify the variant as a VUS within settings of multigene panel testing (example, Tsai_2019). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. At-least one co-occurrence with another pathogenic variant(s) has been reported in the LOVD database (BRCA1 c.2197_2201delGAGAA, p.Glu733fsX5), providing supporting evidence for a benign role. At least two publications report experimental evidence evaluating an impact on protein function (example, Guidugli_2018, Richardson_2021, Hu_2022). These results showed no damaging effect of this variant on homology directed repair (HDR) activity. HDR assays qualify as a recognized gold standard on the basis of updated guidance provided by the ClinGen Sequence Variant Interpretation (SVI) working group. This working group has recommended strong functional evidence (ACMG BS3) as sufficient weightage for categorization as likely benign (Tavtigian_2018). The following publications have been ascertained in the context of this evaluation (PMID: 29849630, 27165003, 29881398, 24814045, 29394989, 29884841, 35736817, 16758124, 20167696, 33609447, 30374176, 15937982, 30055349). Multiple clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with conflicting assessments: likely benign (n=3), benign (n=1), VUS, n=8 and likely pathogenic (n=1). Some submitters cite overlapping evidence utilized in the context of this evaluation. Based on the evidence outlined above, the variant was classified as likely benign. (less)
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Likely benign
(Aug 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002551613.4
First in ClinVar: Jul 22, 2022 Last updated: Aug 18, 2023 |
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Uncertain significance
(Feb 08, 2024)
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criteria provided, single submitter
Method: clinical testing
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BRCA2-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004771702.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The BRCA2 c.7759C>T variant is predicted to result in the amino acid substitution p.Leu2587Phe. This variant has been reported in individuals with colorectal, breast, ovarian, … (more)
The BRCA2 c.7759C>T variant is predicted to result in the amino acid substitution p.Leu2587Phe. This variant has been reported in individuals with colorectal, breast, ovarian, and/or prostate cancer (Infante et al. 2006. PubMed ID: 16758124; Table 1, Garre et al. 2015. PubMed ID: 24814045; Figure S1a, Esteban-Jurado et al. 2016. PubMed ID: 27165003; Figure S1, Table S1, Family 1023, Tsai et al. 2018. PubMed ID: 30374176; Table S3, referred to as Chr13:32932020C>T, Darst et al. 2021. PubMed ID: 32853339). This variant is reported in 0.0079% of alleles in individuals of European (Non-Finnish) descent in gnomAD. It has conflicting interpretations regarding its pathogenicity in ClinVar, ranging from likely benign to likely pathogenic, with the vast majority of clinical laboratory contributors interpreting it as uncertain significance (https://www.ncbi.nlm.nih.gov/clinvar/variation/141335/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (less)
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Likely benign
(Feb 25, 2020)
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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: SCV000184631.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
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Likely benign
(Apr 04, 2017)
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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: SCV000911808.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
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Likely benign
(Mar 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001470446.3
First in ClinVar: Jan 26, 2021 Last updated: Jan 06, 2024 |
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Uncertain significance
(Jan 18, 2024)
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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: SCV000283323.10
First in ClinVar: Jul 01, 2016 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2587 of the BRCA2 protein (p.Leu2587Phe). … (more)
This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2587 of the BRCA2 protein (p.Leu2587Phe). This variant is present in population databases (rs56335340, gnomAD 0.006%). This missense change has been observed in individual(s) with BRCA2-related conditions (PMID: 15937982, 16758124, 24814045, 30254663). This variant is also known as 7987C>T. ClinVar contains an entry for this variant (Variation ID: 141335). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 33609447) indicates that this missense variant is not expected to disrupt BRCA2 function with a negative predictive value of 95%. Experimental studies have shown that this missense change does not substantially affect BRCA2 function (PMID: 29394989). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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Uncertain significance
(Apr 06, 2018)
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no assertion criteria provided
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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True Health Diagnostics
Accession: SCV000805246.1
First in ClinVar: Oct 21, 2017 Last updated: Oct 21, 2017 |
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Benign
(Sep 01, 2023)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
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Department of Medical and Surgical Sciences, University of Bologna
Accession: SCV004228440.1
First in ClinVar: Jan 26, 2024 Last updated: Jan 26, 2024 |
Comment:
BS1(Supporting)+BS3(Strong)+BP5(Very Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)
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Uncertain significance
(Mar 02, 2020)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
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BRCAlab, Lund University
Accession: SCV004243780.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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Likely pathogenic
(Nov 01, 2015)
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Flagged submission
flagged submission
Method: clinical testing
Reason: Outlier claim with insufficient supporting evidence
Source: ClinGen
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Colorectal cancer
Affected status: yes
Allele origin:
germline
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Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer
Study: FAMCOLON
Accession: SCV000262600.1 First in ClinVar: Feb 10, 2017 Last updated: Feb 10, 2017
Comment:
Segregation in the family affected members; frequency in the control datasets <0.01% (ExAC, EVS, CIBERER Spanish Variant Server); in silico pathogenicity predictions (CADD, PolyPhen, SIFT, … (more)
Segregation in the family affected members; frequency in the control datasets <0.01% (ExAC, EVS, CIBERER Spanish Variant Server); in silico pathogenicity predictions (CADD, PolyPhen, SIFT, PhyloP, LRT); LOH in the tumor; variant falls in the domain that interacts with DSS (less)
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Comment:
Variant detected by whole exome sequencing in a family presenting aggregation mainly for colorectal cancer but also for gastric cancer
Number of individuals with the variant: 2
Age: 50-59 years
Sex: male
Ethnicity/Population group: Caucasian
Geographic origin: Spain
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Flagged submissions do not contribute to the aggregate classification or review status for the variant. Learn more |
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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Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay. | Hu C | Clinical cancer research : an official journal of the American Association for Cancer Research | 2022 | PMID: 35736817 |
Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience. | Van der Merwe NC | Frontiers in genetics | 2022 | DOI: 10.3389/fgene.2022.834265 |
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach. | Caputo SM | American journal of human genetics | 2021 | PMID: 34597585 |
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance. | Richardson ME | American journal of human genetics | 2021 | PMID: 33609447 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance. | Tsai GJ | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 30374176 |
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models. | Hart SN | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 29884841 |
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help? | Zuntini R | Frontiers in genetics | 2018 | PMID: 30254663 |
Benchmarking of Amplicon-Based Next-Generation Sequencing Panels Combined with Bioinformatics Solutions for Germline BRCA1 and BRCA2 Alteration Detection. | Vendrell JA | The Journal of molecular diagnostics : JMD | 2018 | PMID: 30055349 |
Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays. | Fraile-Bethencourt E | Frontiers in genetics | 2018 | PMID: 29881398 |
Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries. | Chen E | Journal of oncology | 2018 | PMID: 29849630 |
Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. | Guidugli L | American journal of human genetics | 2018 | PMID: 29394989 |
Long-Term Responders on Olaparib Maintenance in High-Grade Serous Ovarian Cancer: Clinical and Molecular Characterization. | Lheureux S | Clinical cancer research : an official journal of the American Association for Cancer Research | 2017 | PMID: 28223274 |
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. | Esteban-Jurado C | European journal of human genetics : EJHG | 2016 | PMID: 27165003 |
BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X. | Garre P | Clinical genetics | 2015 | PMID: 24814045 |
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations. | Martelotto LG | Genome biology | 2014 | PMID: 25348012 |
Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning. | Mattocks CJ | Clinical chemistry | 2010 | PMID: 20167696 |
High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain). | Infante M | Journal of human genetics | 2006 | PMID: 16758124 |
Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis. | Velasco E | Electrophoresis | 2005 | PMID: 15937982 |
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Text-mined citations for rs56335340 ...
HelpRecord last updated May 19, 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.