This variant is associated with the following publications: (PMID: 26332594, 24055113, 15744044, 12474142, 24728327, 19491284, 23231788, 12491487, 25556971, 22034289, 25637381, 28814288, 18284688)
ClinVar Genomic variation as it relates to human health
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)
Germline
Classification
Help
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.
(25)
Help
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.
Benign/Likely benign
25
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)
Variation ID: 51249 Accession: VCV000051249.50
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 13q13.1 13: 32336493 (GRCh38) [ NCBI UCSC ] 13: 32910630 (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 1, 2014 Sep 29, 2024 Jan 31, 2024 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000059.4:c.2138A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000050.3:p.Gln713Leu missense NC_000013.11:g.32336493A>T NC_000013.10:g.32910630A>T NG_012772.3:g.26014A>T LRG_293:g.26014A>T LRG_293t1:c.2138A>T LRG_293p1:p.Gln713Leu U43746.1:n.2366A>T - Protein change
- Q713L
- Other names
-
p.Q713L:CAG>CTG
NP_000050.3:p.Gln713Leu
2366A>T
- Canonical SPDI
- NC_000013.11:32336492:A:T
-
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.
-
0.00240 (T)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
The Genome Aggregation Database (gnomAD), exomes 0.00035
Exome Aggregation Consortium (ExAC) 0.00050
Trans-Omics for Precision Medicine (TOPMed) 0.00132
The Genome Aggregation Database (gnomAD) 0.00138
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00146
1000 Genomes Project 30x 0.00203
1000 Genomes Project 0.00240
- Links
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 | ||
|---|---|---|---|---|---|---|
| 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 |
19025 | 19184 | |
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/Likely benign (5) |
criteria provided, multiple submitters, no conflicts
|
May 28, 2019 | RCV000077272.10 | |
| Benign/Likely benign (4) |
criteria provided, multiple submitters, no conflicts
|
May 24, 2021 | RCV000120312.19 | |
| Benign (3) |
criteria provided, multiple submitters, no conflicts
|
Dec 8, 2020 | RCV000131496.9 | |
| Uncertain significance (1) |
no assertion criteria provided
|
Jun 1, 2014 | RCV000148430.4 | |
| Benign/Likely benign (8) |
criteria provided, multiple submitters, no conflicts
|
Dec 1, 2022 | RCV000679159.22 | |
| Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Jan 31, 2024 | RCV001083754.9 | |
| Likely benign (1) |
no assertion criteria provided
|
- | RCV001353536.3 |
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. |
|
|---|---|---|---|---|---|
|
Likely benign
(May 17, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000108605.14
First in ClinVar: Dec 10, 2013 Last updated: Mar 04, 2023 |
Comment:
This variant is associated with the following publications: (PMID: 26332594, 24055113, 15744044, 12474142, 24728327, 19491284, 23231788, 12491487, 25556971, 22034289, 25637381, 28814288, 18284688)
|
|
|
Benign
(Dec 01, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000889004.4
First in ClinVar: Sep 14, 2018 Last updated: Jan 06, 2024 |
|
|
|
Benign
(Jan 31, 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: SCV000071963.14
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
|
|
|
Benign
(Sep 11, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000186485.7
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)
|
|
|
Likely benign
(Nov 03, 2014)
|
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: SCV000195967.1
First in ClinVar: May 27, 2015 Last updated: May 27, 2015 |
Tissue: Blood
|
|
|
Likely benign
(Jul 11, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000805666.1
First in ClinVar: Sep 14, 2018 Last updated: Sep 14, 2018 |
|
|
|
Likely benign
(Jan 16, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000859227.1
First in ClinVar: Dec 15, 2018 Last updated: Dec 15, 2018 |
Sex: mixed
|
|
|
Benign
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001139022.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
|
|
Benign
(May 24, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: no
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV002070369.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
|
|
|
Benign
(Dec 08, 2020)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002533297.1
First in ClinVar: Mar 25, 2020 Last updated: Mar 25, 2020 |
|
|
|
Likely benign
(-)
|
criteria provided, single submitter
Method: not provided
|
not provided
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Breakthrough Genomics, Breakthrough Genomics
Accession: SCV005215519.1
First in ClinVar: Sep 29, 2024 Last updated: Sep 29, 2024 |
|
|
|
Likely benign
(Jul 17, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000885100.1
First in ClinVar: Sep 14, 2018 Last updated: Sep 14, 2018 |
|
|
|
Benign
(May 24, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000902740.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
|
|
|
Likely 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: SCV002026073.2
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 8
Geographic origin: South Africa
|
|
|
Benign
(Feb 14, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV004014899.1
First in ClinVar: Jul 22, 2023 Last updated: Jul 22, 2023 |
|
|
|
Uncertain significance
(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: SCV000146011.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 3
Observation 2:
Number of individuals with the variant: 1
Geographic origin: African American
Observation 3:
Number of individuals with the variant: 3
Ethnicity/Population group: African
Observation 4:
Number of individuals with the variant: 3
Ethnicity/Population group: African American
|
|
|
Uncertain significance
(Mar 24, 2008)
|
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: SCV000109069.4
First in ClinVar: Dec 23, 2013 Last updated: May 27, 2015 |
|
|
|
Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
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: SCV001905798.1 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: SCV001930080.1 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: SCV001959046.1 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: SCV001972808.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
|
|
|
Uncertain significance
(Jun 01, 2014)
|
no assertion criteria provided
Method: research
|
Breast cancer
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190129.1 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
|
|
|
|
Likely benign
(Dec 11, 2014)
|
no assertion criteria provided
Method: clinical testing
|
hereditary breast and ovarian cancer, BROVCA2
Affected status: unknown
Allele origin:
germline
|
Pathway Genomics
Accession: SCV000187737.2
First in ClinVar: Aug 15, 2014 Last updated: Jan 10, 2015 |
Number of individuals with the variant: 1
Age: 40-49 years
Sex: female
Ethnicity/Population group: African-american
|
|
|
Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
Malignant tumor of breast
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: SCV000591791.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021 |
Comment:
The BRCA2 p.Gln713Leu variant was identified in 51 of 1748 proband chromosomes (frequency: 0.03) from individuals or families with prostate, breast and ovarian cancer (Edwards … (more)
The BRCA2 p.Gln713Leu variant was identified in 51 of 1748 proband chromosomes (frequency: 0.03) from individuals or families with prostate, breast and ovarian cancer (Edwards 2003, Fackenthal 2012, Trujillano 2015). The variant was also identified in dbSNP (ID: rs55816687) as “With Uncertain significance, other allele”, Clinvitae database (conflicting interpretations of pathogenicity), the ClinVar database (classified as benign by Invitae; classified as likely benign by GeneDx, Ambry Genetics, MMGLUM, Pathway Genomics; classified as uncertain significance by CSER_CC_NCGL, SCRP, BIC), the BIC database (10x with unknown clinical importance), UMD (28x with a “unclassified variant” classification) and Fanconi Anemia Mutation Database (LOVD). This variant was identified in the 1000 Genomes Project in 12 of 5000 chromosomes (frequency: 0.002), NHLBI GO Exome Sequencing Project in 19 of 4406 African American alleles, the Exome Aggregation Consortium database (August 8, 2016) in 61 of 120866 chromosomes (freq. 0.0005) in the following populations: African in 60 of 10122 chromosomes (freq. 0.006), Latino in 1 of 11476 chromosomes (freq. 0.0001), increasing the likelihood that this may be a low frequency benign variant in certain populations of origin. The p.Gln713 residue is not conserved in mammals and three out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and 5 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; loss of splicing site at a non-splice site consensus sequence. However, this information is not predictive enough to assume pathogenicity. 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 likely benign. (less)
Number of individuals with the variant: 2
|
|
|
not provided
(Sep 19, 2013)
|
no classification provided
Method: reference population
|
AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
|
ITMI
Accession: SCV000084464.1
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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Comment:
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 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.
Comment:
The BRCA2 p.Gln713Leu variant was identified in 51 of 1748 proband chromosomes (frequency: 0.03) from individuals or families with prostate, breast and ovarian cancer (Edwards 2003, Fackenthal 2012, Trujillano 2015). The variant was also identified in dbSNP (ID: rs55816687) as “With Uncertain significance, other allele”, Clinvitae database (conflicting interpretations of pathogenicity), the ClinVar database (classified as benign by Invitae; classified as likely benign by GeneDx, Ambry Genetics, MMGLUM, Pathway Genomics; classified as uncertain significance by CSER_CC_NCGL, SCRP, BIC), the BIC database (10x with unknown clinical importance), UMD (28x with a “unclassified variant” classification) and Fanconi Anemia Mutation Database (LOVD). This variant was identified in the 1000 Genomes Project in 12 of 5000 chromosomes (frequency: 0.002), NHLBI GO Exome Sequencing Project in 19 of 4406 African American alleles, the Exome Aggregation Consortium database (August 8, 2016) in 61 of 120866 chromosomes (freq. 0.0005) in the following populations: African in 60 of 10122 chromosomes (freq. 0.006), Latino in 1 of 11476 chromosomes (freq. 0.0001), increasing the likelihood that this may be a low frequency benign variant in certain populations of origin. The p.Gln713 residue is not conserved in mammals and three out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and 5 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; loss of splicing site at a non-splice site consensus sequence. However, this information is not predictive enough to assume pathogenicity. 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 likely benign.
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. |
Comment:
This variant is associated with the following publications: (PMID: 26332594, 24055113, 15744044, 12474142, 24728327, 19491284, 23231788, 12491487, 25556971, 22034289, 25637381, 28814288, 18284688)
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 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.
Comment:
The BRCA2 p.Gln713Leu variant was identified in 51 of 1748 proband chromosomes (frequency: 0.03) from individuals or families with prostate, breast and ovarian cancer (Edwards 2003, Fackenthal 2012, Trujillano 2015). The variant was also identified in dbSNP (ID: rs55816687) as “With Uncertain significance, other allele”, Clinvitae database (conflicting interpretations of pathogenicity), the ClinVar database (classified as benign by Invitae; classified as likely benign by GeneDx, Ambry Genetics, MMGLUM, Pathway Genomics; classified as uncertain significance by CSER_CC_NCGL, SCRP, BIC), the BIC database (10x with unknown clinical importance), UMD (28x with a “unclassified variant” classification) and Fanconi Anemia Mutation Database (LOVD). This variant was identified in the 1000 Genomes Project in 12 of 5000 chromosomes (frequency: 0.002), NHLBI GO Exome Sequencing Project in 19 of 4406 African American alleles, the Exome Aggregation Consortium database (August 8, 2016) in 61 of 120866 chromosomes (freq. 0.0005) in the following populations: African in 60 of 10122 chromosomes (freq. 0.006), Latino in 1 of 11476 chromosomes (freq. 0.0001), increasing the likelihood that this may be a low frequency benign variant in certain populations of origin. The p.Gln713 residue is not conserved in mammals and three out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and 5 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; loss of splicing site at a non-splice site consensus sequence. However, this information is not predictive enough to assume pathogenicity. 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 likely benign.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| 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 |
| Identification of Medically Actionable Secondary Findings in the 1000 Genomes. | Olfson E | PloS one | 2015 | PMID: 26332594 |
| Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
| Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer. | Trujillano D | The Journal of molecular diagnostics : JMD | 2015 | PMID: 25556971 |
| Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. | Bodian DL | PloS one | 2014 | PMID: 24728327 |
| Actionable, pathogenic incidental findings in 1,000 participants' exomes. | Dorschner MO | American journal of human genetics | 2013 | PMID: 24055113 |
| Variants of uncertain significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling. | Moghadasi S | Journal of medical genetics | 2013 | PMID: 23231788 |
| High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. | Fackenthal JD | International journal of cancer | 2012 | PMID: 22034289 |
| Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. | Haffty BG | Annals of oncology : official journal of the European Society for Medical Oncology | 2009 | PMID: 19491284 |
| 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 |
| Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women. | Haffty BG | Journal of medical genetics | 2006 | PMID: 15983021 |
| Complete allelic analysis of BRCA1 and BRCA2 variants in young Nigerian breast cancer patients. | Fackenthal JD | Journal of medical genetics | 2005 | PMID: 15744044 |
| Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. | Edwards SM | American journal of human genetics | 2003 | PMID: 12474142 |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA2 | - | - | - | - |
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Text-mined citations for rs55816687 ...
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at this location. Please review the LitVar results carefully for your
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Record last updated Sep 29, 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.