ClinVar Genomic variation as it relates to human health
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
Variation ID: 37863 Accession: VCV000037863.93
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 13q13.1 13: 32338224 (GRCh38) [ NCBI UCSC ] 13: 32912361 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 4, 2013 Oct 8, 2024 Jan 12, 2015 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000059.4:c.3869G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000050.3:p.Cys1290Tyr missense NC_000013.11:g.32338224G>A NC_000013.10:g.32912361G>A NG_012772.3:g.27745G>A LRG_293:g.27745G>A LRG_293t1:c.3869G>A LRG_293p1:p.Cys1290Tyr U43746.1:n.4097G>A - Protein change
- C1290Y
- Other names
- 4097 G>A
- NP_000050.3:p.Cys1290Tyr
- 4097G>A
- Canonical SPDI
- NC_000013.11:32338223:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
-
0.00339 (A)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00087
Exome Aggregation Consortium (ExAC) 0.00100
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00304
The Genome Aggregation Database (gnomAD) 0.00307
1000 Genomes Project 30x 0.00328
Trans-Omics for Precision Medicine (TOPMed) 0.00331
1000 Genomes Project 0.00339
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. |
|||
BRCA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
18955 | 19114 |
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. |
---|---|---|---|---|
Benign (10) |
reviewed by expert panel
|
Jan 12, 2015 | RCV000113233.25 | |
Benign (9) |
criteria provided, multiple submitters, no conflicts
|
Aug 15, 2023 | RCV000120338.36 | |
Benign (4) |
criteria provided, multiple submitters, no conflicts
|
Oct 4, 2020 | RCV000128895.15 | |
Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Feb 1, 2024 | RCV000167839.27 | |
Likely benign (1) |
criteria provided, single submitter
|
Feb 2, 2018 | RCV000319921.13 | |
Benign (1) |
criteria provided, single submitter
|
Feb 23, 2017 | RCV000467710.11 | |
Benign/Likely benign (8) |
criteria provided, multiple submitters, no conflicts
|
Apr 1, 2024 | RCV000514107.33 | |
Benign (1) |
criteria provided, single submitter
|
May 2, 2022 | RCV003149596.9 |
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. |
|
---|---|---|---|---|---|
Benign
(Jan 12, 2015)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial 2
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000245029.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Comment:
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01423 (African), derived from 1000 genomes (2012-04-30).
|
|
Benign
(Feb 23, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
(Autosomal dominant inheritance)
Affected status: no
Allele origin:
germline
|
Baylor Genetics
Accession: SCV000541061.1
First in ClinVar: Apr 17, 2017 Last updated: Apr 17, 2017 |
|
|
Benign
(Jun 15, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001469680.1
First in ClinVar: Jan 26, 2021 Last updated: Jan 26, 2021 |
|
|
Likely benign
(Mar 18, 2014)
|
criteria provided, single submitter
Method: literature only
|
Breast-ovarian cancer, familial 2
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000154085.2
First in ClinVar: Jun 09, 2014 Last updated: Dec 24, 2022 |
|
|
Benign
(Feb 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000072307.15
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
|
|
Benign
(Nov 22, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000602782.5
First in ClinVar: Sep 28, 2017 Last updated: Feb 20, 2024 |
|
|
Benign
(Jun 10, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004848561.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
The p.Cys1290Tyr variant in BRCA2 is classified as benign because it has been identified in 1.05% (232/22064) of African chromosomes, including 2 homozygotes, by gnomAD … (more)
The p.Cys1290Tyr variant in BRCA2 is classified as benign because it has been identified in 1.05% (232/22064) of African chromosomes, including 2 homozygotes, by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1. (less)
|
|
Benign
(Jun 20, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: no
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000593713.1
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
|
|
Benign
(Jul 14, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000332977.4
First in ClinVar: Dec 06, 2016 Last updated: Sep 22, 2018 |
Number of individuals with the variant: 1
Sex: mixed
|
|
Likely benign
(Feb 02, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000383689.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
|
|
Likely benign
(Feb 02, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Fanconi anemia complementation group D1
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000383690.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
|
|
Likely benign
(Nov 01, 2021)
|
criteria provided, single submitter
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Genetics Program, Instituto Nacional de Cancer
Accession: SCV002515268.1
First in ClinVar: Nov 19, 2022 Last updated: Nov 19, 2022 |
Geographic origin: Brazil
|
|
Benign
(Oct 04, 2020)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002533829.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
|
|
Benign
(Aug 26, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683588.2
First in ClinVar: Feb 19, 2018 Last updated: Dec 11, 2022 |
|
|
Benign
(May 02, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV003838154.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
|
|
Benign
(Feb 05, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 2
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004845239.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Number of individuals with the variant: 200
|
|
Benign
(Oct 30, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial 2
Affected status: unknown
Allele origin:
germline
|
Pathway Genomics
Accession: SCV000223761.1
First in ClinVar: Jun 08, 2015 Last updated: Jun 08, 2015 |
|
|
Benign
(Apr 21, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
|
Michigan Medical Genetics Laboratories, University of Michigan
Accession: SCV000267762.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Tissue: Blood
|
|
Likely benign
(Nov 05, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000575737.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
|
|
Likely benign
(Jun 19, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: not provided
Allele origin:
germline
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
Accession: SCV000610415.1
First in ClinVar: Nov 05, 2017 Last updated: Nov 05, 2017 |
|
|
Benign
(Apr 19, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State
Accession: SCV002026095.2
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 15
Geographic origin: South Africa
|
|
Benign
(Nov 03, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: not provided
Allele origin:
germline
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002010375.3
First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023 |
|
|
Benign
(Jul 07, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV004016854.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
|
|
Benign
(Aug 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002550327.4
First in ClinVar: Jul 30, 2022 Last updated: Aug 18, 2023 |
|
|
Benign
(Jul 22, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000172755.7
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)
|
|
Benign
(Apr 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV005041675.5
First in ClinVar: May 12, 2024 Last updated: Oct 08, 2024 |
Comment:
BRCA2: BS1, BS2
Number of individuals with the variant: 1
|
|
Benign
(Mar 01, 2011)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 2
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000054049.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
|
|
Likely benign
(Sep 06, 2018)
|
no assertion criteria provided
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
True Health Diagnostics
Accession: SCV000886673.1
First in ClinVar: Feb 19, 2018 Last updated: Feb 19, 2018 |
|
|
Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002035905.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
|
|
Benign
(May 29, 2002)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 2
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000146322.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 13
Observation 2:
Number of individuals with the variant: 1
Geographic origin: African American
Observation 3:
Number of individuals with the variant: 1
Geographic origin: Latin American, Caribbean
Observation 4:
Number of individuals with the variant: 16
Ethnicity/Population group: African
Observation 5:
Number of individuals with the variant: 2
Ethnicity/Population group: African American
Observation 6:
Number of individuals with the variant: 3
Ethnicity/Population group: African, Native American
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Asian, Indian
Observation 8:
Number of individuals with the variant: 1
Ethnicity/Population group: Central/Eastern European
Observation 9:
Number of individuals with the variant: 1
Ethnicity/Population group: Latin American, Caribbean
Observation 10:
Number of individuals with the variant: 1
Ethnicity/Population group: Latin American, Caribbean, Cuban
Observation 11:
Number of individuals with the variant: 1
Ethnicity/Population group: Near Eastern
Observation 12:
Number of individuals with the variant: 1
Ethnicity/Population group: Near Eastern, Iranian
Observation 13:
Number of individuals with the variant: 1
Ethnicity/Population group: Near Eastern, Lebanese
Observation 14:
Number of individuals with the variant: 2
Ethnicity/Population group: Western European
Observation 15:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, African American
Observation 16:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Native American, Latin American, Caribbean
|
|
Likely benign
(Mar 06, 2017)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000778668.1
First in ClinVar: Jun 23, 2018 Last updated: Jun 23, 2018 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
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: SCV000591880.2 First in ClinVar: Dec 06, 2016 Last updated: Jan 26, 2021 |
Comment:
The p.Cys1290Tyr variant has been identified in 15 out of 5374 proband chromosomes (frequency 0.003) in individuals with breast cancer phenotype, however no normal population … (more)
The p.Cys1290Tyr variant has been identified in 15 out of 5374 proband chromosomes (frequency 0.003) in individuals with breast cancer phenotype, however no normal population controls were included in these studies (Dufloth 2005, Borg 2010, Wagner 1999, Fackenthal 2011, Cherbal 2010). However, it is listed in dbSNP database as coming from a "clinical source" (ID#: rs41293485) with a "global minor allele frequency" of 0.003, therefore increasing the likelihood this variant is benign. The p.Cys1290 residue is not conserved in mammals and the variant amino acid tyrosine (Tyr) is present in cat, decreasing the likelihood that this variant has functional significance. In addition, in silico or computational analyses (Polyphen2, AlignGVGD, Sift) do not suggest this variant has an impact on the protein function. In the UMD database, this variant has been identified in 1 (out of 7) individuals with breast or ovarian cancers, where a second pathogenic BRCA1 mutation was also detected, further suggesting that this is a benign variant. This variant was identified in the BIC database and indicated as having no clinical significance in 47 entries. In summary, based on the above information, this variant is classified as Benign. (less)
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001906030.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
|
|
Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001930523.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001956990.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
|
Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001969109.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
|
|
not provided
(Sep 19, 2013)
|
no classification provided
Method: reference population
|
AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
|
ITMI
Accession: SCV000084490.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
|
Observation 1:
Ethnicity/Population group: Whole_cohort
Observation 2:
Ethnicity/Population group: African
Observation 3:
Ethnicity/Population group: African_European
Observation 4:
Ethnicity/Population group: Central_Asian
Observation 5:
Ethnicity/Population group: East_Asian
Observation 6:
Ethnicity/Population group: European
Observation 7:
Ethnicity/Population group: Hispanic
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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 |
---|---|---|---|---|
Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service. | Matta BP | Scientific reports | 2022 | PMID: 36329109 |
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 |
Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next-generation sequencing. | Al Hannan F | Molecular genetics & genomic medicine | 2019 | PMID: 31131559 |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25741868 |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. | Bodian DL | PloS one | 2014 | PMID: 24728327 |
BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. | Kote-Jarai Z | British journal of cancer | 2011 | PMID: 21952622 |
Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling. | Capanu M | Genetic epidemiology | 2011 | PMID: 21520273 |
BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families. | Cherbal F | Disease markers | 2010 | PMID: 20683152 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients. | Lee E | Breast cancer research : BCR | 2008 | PMID: 18284688 |
Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history. | Dufloth RM | Sao Paulo medical journal = Revista paulista de medicina | 2005 | PMID: 16389418 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. | Wagner TM | Human molecular genetics | 1999 | PMID: 9971877 |
http://evs.gs.washington.edu/EVS/; http://www.1000genomes.org/ | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA2 | - | - | - | - |
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Text-mined citations for rs41293485 ...
HelpRecord last updated Oct 13, 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.