ClinVar Genomic variation as it relates to human health
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
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(4); Benign(7); Likely benign(8)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
Variation ID: 41563 Accession: VCV000041563.48
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 13q13.1 13: 32356496 (GRCh38) [ NCBI UCSC ] 13: 32930633 (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 12, 2013 May 12, 2024 Apr 1, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000059.4:c.7504C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000050.3:p.Arg2502Cys missense NC_000013.11:g.32356496C>T NC_000013.10:g.32930633C>T NG_012772.3:g.46017C>T LRG_293:g.46017C>T LRG_293t1:c.7504C>T LRG_293p1:p.Arg2502Cys U43746.1:n.7732C>T - Protein change
- R2502C
- Other names
- p.R2502C:CGC>TGC
- Canonical SPDI
- NC_000013.11:32356495: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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0.00040 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00027
Exome Aggregation Consortium (ExAC) 0.00030
1000 Genomes Project 0.00040
1000 Genomes Project 30x 0.00047
The Genome Aggregation Database (gnomAD) 0.00100
Trans-Omics for Precision Medicine (TOPMed) 0.00113
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00115
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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BRCA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
18724 | 18882 |
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 (6) |
criteria provided, conflicting classifications
|
Apr 1, 2024 | RCV000034459.29 | |
Benign/Likely benign (4) |
criteria provided, multiple submitters, no conflicts
|
Feb 1, 2024 | RCV000045233.30 | |
Uncertain significance (4) |
criteria provided, single submitter
|
Apr 12, 2016 | RCV000077403.17 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
|
Dec 5, 2022 | RCV000148436.12 | |
Benign/Likely benign (4) |
criteria provided, multiple submitters, no conflicts
|
May 17, 2021 | RCV000131136.16 | |
Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
|
May 18, 2019 | RCV000168602.41 | |
Likely benign (1) |
criteria provided, single submitter
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Feb 1, 2022 | RCV004534718.1 |
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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Likely benign
(Jan 30, 2018)
|
criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000108638.11
First in ClinVar: Dec 10, 2013 Last updated: Apr 09, 2018 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
|
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Uncertain significance
(Nov 05, 2014)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000226200.5
First in ClinVar: Jun 29, 2015 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 1
Sex: mixed
|
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Likely benign
(Jul 13, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: no
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000593754.2
First in ClinVar: Apr 08, 2017 Last updated: Jun 13, 2020 |
|
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Likely benign
(May 17, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002531861.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Uncertain significance
(Jun 23, 2016)
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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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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000538498.1
First in ClinVar: Apr 08, 2017 Last updated: Apr 08, 2017 |
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency; ClinVar: 2 LB, 7 VUS (less)
Method: Genome/Exome Filtration
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Likely benign
(May 18, 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: SCV000883514.2
First in ClinVar: Dec 15, 2018 Last updated: Feb 10, 2020 |
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Benign
(Jan 22, 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: SCV000186071.7
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as 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 01, 2024)
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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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV005042081.1
First in ClinVar: May 12, 2024 Last updated: May 12, 2024 |
Comment:
BRCA2: BP4, BS1
Number of individuals with the variant: 1
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Uncertain significance
(Jun 01, 2014)
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criteria provided, single submitter
Method: research
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Breast and/or ovarian cancer
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190135.2 First in ClinVar: Dec 06, 2014 Last updated: Dec 06, 2014
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
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Comment:
Low GERP score may suggest that this variant may belong in a lower pathogenicity class
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Benign
(Feb 11, 2016)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695071.1
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
Comment:
Variant summary: Variant affects a non-conserved nucleotide and results in a replacement of a large size and basic Arginine (R) with a medium size and … (more)
Variant summary: Variant affects a non-conserved nucleotide and results in a replacement of a large size and basic Arginine (R) with a medium size and polar Cysteine (C). 4/5 in silico tools predict the variant to be benign. It was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.029%. It is most prevalent in the African subpopulation with an observed allele frequency of 0.29% which exceeds the maximal expected allele frequency of a disease causing BRCA2 allele (0.075%) indicating the variant to be benign. The variant was also observed in HBOC spectrum patients, however without strong evidence for pathogenicity. A functional study reported the variant not to have an effect on normal splicing. Moreover, BIC reports co-occurrence with multiple pathogenic BRCA1 variants c.3764_3765insA (p.Asn1255fsX12), and c.5324T>G (p.Met1775Arg) and c. 5074G>A (p.Asp1692Asn) further supporting a benign impact. Clinical diagnostic centers classify variant as Uncertain/Likely Benign/Benign via ClinVar (without evidence to independently evaluate). Considering all evidence, the variant was classified as Benign. (less)
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Benign
(May 24, 2016)
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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: SCV000902720.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
|
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Likely benign
(Dec 03, 2020)
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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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St. Jude Molecular Pathology, St. Jude Children's Research Hospital
Accession: SCV001450728.1
First in ClinVar: Dec 19, 2020 Last updated: Dec 19, 2020 |
Comment:
The BRCA2 c.7504C>T (p.Arg2502Cys) missense change has a maximum subpopulation frequency of 0.32% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/13-32930633-C-T). This frequency is higher than would be expected … (more)
The BRCA2 c.7504C>T (p.Arg2502Cys) missense change has a maximum subpopulation frequency of 0.32% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/13-32930633-C-T). This frequency is higher than would be expected for a pathogenic variant in BRCA2 (BS1; PMID: 28166811). This variant affects a nucleotide that is not highly conserved and is predicted to be benign by multiple in silico algorithms (BP4). In summary, this variant meets criteria to be classified as likely benign based on the ACMG/AMP criteria: BS1, BP4. (less)
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Uncertain significance
(Apr 12, 2016)
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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: SCV000488326.2
First in ClinVar: Sep 27, 2014 Last updated: Dec 24, 2022 |
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Benign
(Aug 22, 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
|
Mendelics
Accession: SCV000838854.3
First in ClinVar: Oct 10, 2018 Last updated: Aug 25, 2023 |
|
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Benign
(Oct 19, 2023)
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criteria provided, single submitter
Method: curation
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Hereditary breast ovarian cancer syndrome
Affected status: not provided
Allele origin:
germline
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German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
Accession: SCV004167628.2
First in ClinVar: Nov 25, 2023 Last updated: Dec 02, 2023 |
Comment:
(BA1, BS3, BP4_strong). According to the ACMG standard criteria we chose these criteria: BP4 (strong benign): Bayes Del noAF (-0.0527), BS3 (strong benign): Richardson et … (more)
(BA1, BS3, BP4_strong). According to the ACMG standard criteria we chose these criteria: BP4 (strong benign): Bayes Del noAF (-0.0527), BS3 (strong benign): Richardson et al., 2021: neutral / final classification: benign (BA1, BS3, BP4_strong), BA1 (stand-alone benign): gnomAD: AF AFR: 0.003065 (less)
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Benign
(Sep 15, 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: SCV000296686.6
First in ClinVar: Sep 27, 2014 Last updated: Jan 06, 2024 |
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Likely benign
(Dec 05, 2022)
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criteria provided, single submitter
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV004240352.1
First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
|
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Benign
(Feb 01, 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: SCV000073246.14
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
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Likely benign
(Feb 01, 2022)
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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: SCV004743322.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
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variant of unknown significance
(Jul 13, 2012)
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no assertion criteria provided
Method: research
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not provided
Affected status: no
Allele origin:
germline
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Biesecker Lab/Clinical Genomics Section, National Institutes of Health
Study: ClinSeq
Accession: SCV000043226.1 First in ClinVar: Apr 12, 2013 Last updated: Apr 12, 2013 |
Comment:
Converted during submission to Uncertain significance.
Number of individuals with the variant: 1
Comment on evidence:
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:22703879 for … (more)
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:22703879 for details. (less)
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Uncertain significance
(May 29, 2002)
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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,
unknown
|
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000147108.2
First in ClinVar: Apr 01, 2014 Last updated: Sep 27, 2014 |
Observation 1:
Number of individuals with the variant: 4
Observation 2:
Number of individuals with the variant: 7
Ethnicity/Population group: African
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Ashkenazi, Latin American, Caribbean
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Germany
Observation 5:
Number of individuals with the variant: 2
Ethnicity/Population group: Latin American, Caribbean
Observation 6:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
Observation 7:
Number of individuals with the variant: 1
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Uncertain significance
(Feb 09, 2007)
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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
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000109200.4
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
|
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Likely benign
(Jan 05, 2018)
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no assertion criteria provided
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
True Health Diagnostics
Accession: SCV000787950.1
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
|
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Uncertain significance
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000592116.2 First in ClinVar: Apr 08, 2017 Last updated: Apr 13, 2021 |
Comment:
The BRCA2 p.Arg2502Cys variant was identified in 1 of 1144 proband chromosomes (frequency: 0.0.001) from individuals or families with cancer syndromes (Johnston 2012). The variant … (more)
The BRCA2 p.Arg2502Cys variant was identified in 1 of 1144 proband chromosomes (frequency: 0.0.001) from individuals or families with cancer syndromes (Johnston 2012). The variant was also identified by our laboratory in 1 individual with breast cancer. The variant was identified in dbSNP (ID: rs55716624 “With Uncertain significance allele”, with a minor allele frequency of 0.0004 (2/5000 chromosomes tested in 1000 Genomes Project), NHLBI Exome Sequencing Project (Exome Variant Server) in 15 of 4406 African Americans (frequency: 0.0034) and not found in European Americans, Exome Aggregation Consortium database (March 14, 2016) in 36 of 121024 chromosomes (frequency:0.003) from a population of African (30/10322), European (Non-Finnish-4/66524), Latino (1/11538) individuals and not in East Asian , South Asian and European (Finnish) or Other individuals. The p.Arg2502Cys variant was also identified in HGMD, LOVD (2x as unknown), classified as an Uncertain significance variant by 6 separate submitters to the ClinVar database (the Sharing Clinical Reports Project derived from Myriad reports, GeneDX, BIC, Ambry Genetics, CSER_CC_NCGL, Biesecker Laboratory – ClinSeq Project_NHGRI), GeneInsight COGR 1x (classified as uncertain by a clinical laboratory), the BIC database (17x with unknown clinical importance), and UMD (6x as an uncertain variant). Note the variant co-occurred 2x with 2 other variants of unknown significance i.e. c.1798T>C, p.Tyr600His VUS and c.IVS10+9delGT VUS. The p.Arg2502 residue is not conserved in mammals and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, MutationTaster) do not suggest a high likelihood of impact to the protein. However, this information is not predictive enough to rule out pathogenicity. The p.Arg2502Cys variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In addition, an assessment of 1,433 missense variants of unknown clinical significance, a likelihood ratio was computed based on a hypothesis that the variants were equivalent to an average deleterious mutation compared with neutral with respect to odds risk to other factors such as family history and co-occurrence. The likelihood ratios derived from each component were combined to provide an overall assessment for each VUS. The combined odds ratio for the variant was 21:1 and predicted causal, an odds ratio of 100:1 being neutral (Easton 2007). In another study (Karchin 2008), the authors are in disagreement with the conclusion of the Easton study. They have presented a new computational approach for analyzing the impact of missense changes in the DNA-binding domains of the cancer susceptibility protein BRCA2 that uses information from protein sequence, structure, and sequence conservation. They concluded the 2502Cys variant as neutral. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. (less)
Number of individuals with the variant: 2
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Benign
(Feb 02, 2024)
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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: SCV004243767.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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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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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 |
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. | Parsons MT | Human mutation | 2019 | PMID: 31131967 |
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 |
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. | Momozawa Y | Nature communications | 2018 | PMID: 30287823 |
Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. | Guidugli L | American journal of human genetics | 2018 | PMID: 29394989 |
Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer. | Rummel SK | Breast cancer research and treatment | 2017 | PMID: 28503720 |
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. | Vail PJ | Journal of community genetics | 2015 | PMID: 25782689 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
Actionable, pathogenic incidental findings in 1,000 participants' exomes. | Dorschner MO | American journal of human genetics | 2013 | PMID: 24055113 |
Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations. | George J | Clinical cancer research : an official journal of the American Association for Cancer Research | 2013 | PMID: 23633455 |
Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer. | Ozcelik H | The Journal of molecular diagnostics : JMD | 2012 | PMID: 22874498 |
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 |
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. | Johnston JJ | American journal of human genetics | 2012 | PMID: 22703879 |
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. | Houdayer C | Human mutation | 2012 | PMID: 22505045 |
High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. | Fackenthal JD | International journal of cancer | 2012 | PMID: 22034289 |
Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. | Karchin R | Cancer informatics | 2008 | PMID: 19043619 |
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. | Easton DF | American journal of human genetics | 2007 | PMID: 17924331 |
Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition gene BRCA2. | Weber J | Electrophoresis | 2006 | PMID: 16550498 |
Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer. | Gao Q | Human genetics | 2000 | PMID: 11030417 |
Incidence of BRCA1/2 germ line alterations in a high risk cohort participating in a phase II chemoprevention trial. | Klemp J | European journal of cancer (Oxford, England : 1990) | 2000 | PMID: 10882858 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA2 | - | - | - | - |
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Text-mined citations for rs55716624 ...
HelpRecord last updated May 12, 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.