VCV000125976.86 - ClinVar

NM_000059.4(BRCA2):c.-11C>T

Germline

Top reviewed classifications are shown here.

Submission summary:

29 submissions

28 submitters

8 conditions

Reviewed by expert panel

Benign

Jan 2015 by Evidence-based…

for Breast-ovarian cancer, familial 2

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000059.4(BRCA2):c.-11C>T

Variation ID: 125976 Accession: VCV000125976.86

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 13q13.1 13: 32316450 (GRCh38) [ NCBI UCSC ] 13: 32890587 (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, 2014	Sep 29, 2024	Jan 12, 2015

HGVS

Nucleotide	Protein	Molecular consequence
NM_000059.4:c.-11C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.		5 prime UTR
NC_000013.11:g.32316450C>T
NC_000013.10:g.32890587C>T
NG_012772.3:g.5971C>T
NG_017006.2:g.3914G>A
LRG_293:g.5971C>T
LRG_293t1:c.-11C>T
U43746.1:n.218C>T

... more HGVS ... less HGVS

Protein change

Other names

218C>T
218 C>T

Canonical SPDI

NC_000013.11:32316449:C:T

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The 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.

0.00439 (T)

Allele frequency Help The frequency of the allele represented by this VCV record.

The Genome Aggregation Database (gnomAD), exomes 0.00117

Exome Aggregation Consortium (ExAC) 0.00163

1000 Genomes Project 0.00439

1000 Genomes Project 30x 0.00468

Trans-Omics for Precision Medicine (TOPMed) 0.00526

The Genome Aggregation Database (gnomAD) 0.00539

NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00584

Links

Breast Cancer Information Core (BIC) (BRCA2): 218&base_change=C to T ClinGen: CA011132 dbSNP: rs76874770 VarSome

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
Gene	OMIM	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	18995	19154

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.
Breast-ovarian cancer, familial, susceptibility to, 2	Benign (10)	reviewed by expert panel	Jan 12, 2015	RCV000113002.25
not specified	Benign/Likely benign (6)	criteria provided, multiple submitters, no conflicts	Feb 6, 2024	RCV000175515.28
Hereditary cancer-predisposing syndrome	Benign/Likely benign (3)	criteria provided, multiple submitters, no conflicts	Jan 2, 2022	RCV000131010.17
Hereditary breast ovarian cancer syndrome	Benign (4)	criteria provided, multiple submitters, no conflicts	Feb 1, 2024	RCV000205927.25
Fanconi anemia complementation group D1	Likely benign (1)	criteria provided, single submitter	Nov 1, 2018	RCV000370664.14
Malignant tumor of breast	Benign (1)	no assertion criteria provided	-	RCV001353870.11
not provided	Benign (3)	criteria provided, multiple submitters, no conflicts	Apr 4, 2022	RCV001705819.17
Breast and/or ovarian cancer	Benign (1)	criteria provided, single submitter	Oct 29, 2021	RCV003149775.9

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 (ENIGMA BRCA1/2 Classification Criteria (2015)) 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: SCV000244918.1 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 0.02236 (African), derived from 1000 genomes (2012-04-30).
Benign (Mar 03, 2015)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV001885120.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021
Benign (Apr 15, 2014)	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) Method: clinical testing	Hereditary breast ovarian cancer syndrome Affected status: unknown Allele origin: germline	Women's Health and Genetics/Laboratory Corporation of America, LabCorp Accession: SCV000494355.2 First in ClinVar: Feb 04, 2017 Last updated: Dec 11, 2022	Publications: PubMed (5) PubMed: 20104584‚ 12955716‚ 22505045‚ 21120943‚ 12942367
Benign (Jul 29, 2014)	criteria provided, single submitter (Ambry Variant Classification Scheme 2023) Method: clinical testing	Hereditary cancer-predisposing syndrome Affected status: unknown Allele origin: germline	Ambry Genetics Accession: SCV000185936.4 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 (Mar 10, 2016)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not specified Affected status: no Allele origin: germline	Genetic Services Laboratory, University of Chicago Accession: SCV000593696.1 First in ClinVar: Jun 28, 2015 Last updated: Jun 28, 2015
Likely benign (Jul 12, 2017)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Hereditary cancer-predisposing syndrome Affected status: unknown Allele origin: germline	Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. Accession: SCV000679705.1 First in ClinVar: Aug 06, 2014 Last updated: Aug 06, 2014
Benign (Sep 21, 2015)	criteria provided, single submitter (ACGS Guidelines, 2013) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: yes Allele origin: germline	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center Study: VKGL Data-share Consensus Accession: SCV000744376.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018
Benign (Nov 22, 2016)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not specified Affected status: unknown Allele origin: germline	PreventionGenetics, part of Exact Sciences Accession: SCV000805638.1 First in ClinVar: May 03, 2018 Last updated: May 03, 2018
Benign (Jul 16, 2014)	criteria provided, single submitter (EGL Classification Definitions 2015) Method: clinical testing	not specified Affected status: unknown Allele origin: germline	Eurofins Ntd Llc (ga) Accession: SCV000227007.5 First in ClinVar: Jun 28, 2015 Last updated: May 03, 2018	Other databases http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA2 Number of individuals with the variant: 3 Zygosity: Single Heterozygote Sex: mixed
Benign (Apr 19, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) 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: SCV002026059.2 First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022	Publications: DOI: 10.3389/fgene.2022.834265 DOI: 10.3389/fgene.2022.834265 Number of individuals with the variant: 63 Geographic origin: South Africa
Benign (Nov 01, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: research	Hereditary breast ovarian cancer syndrome Affected status: yes Allele origin: germline	Genetics Program, Instituto Nacional de Cancer Accession: SCV002515236.1 First in ClinVar: Nov 19, 2022 Last updated: Nov 19, 2022	Publications: PubMed (1) PubMed: 36329109 Geographic origin: Brazil
Benign (Apr 04, 2022)	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories Accession: SCV000602859.7 First in ClinVar: Jun 28, 2015 Last updated: Mar 04, 2023
Benign (Oct 29, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) 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: SCV003838811.1 First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023	Publications: PubMed (1) PubMed: 25741868
Benign (Jul 07, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: yes Allele origin: germline	KCCC/NGS Laboratory, Kuwait Cancer Control Center Accession: SCV004016860.1 First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023
Benign (Feb 06, 2024)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not specified Affected status: unknown Allele origin: germline	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital Accession: SCV004242594.1 First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024
Benign (Feb 01, 2024)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Hereditary breast ovarian cancer syndrome Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000260705.8 First in ClinVar: Jan 31, 2016 Last updated: Feb 20, 2024
Benign (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: not provided	not provided (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Breakthrough Genomics, Breakthrough Genomics Accession: SCV005236003.1 First in ClinVar: Sep 29, 2024 Last updated: Sep 29, 2024
Benign (Nov 03, 2014)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: yes Allele origin: germline	Michigan Medical Genetics Laboratories, University of Michigan Accession: SCV000195943.1 First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015	Tissue: Blood
Benign (Jul 28, 2017)	criteria provided, single submitter (ACGS Guidelines, 2013) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: yes Allele origin: germline	Genome Diagnostics Laboratory, University Medical Center Utrecht Study: VKGL Data-share Consensus Accession: SCV000743233.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018
Likely benign (Nov 01, 2018)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Fanconi anemia complementation group D1 Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000383599.3 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, 2018)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000383600.3 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)
Benign (May 12, 2014)	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015)) Method: literature only	Breast-ovarian cancer, familial 2 (Autosomal dominant inheritance) Affected status: unknown Allele origin: unknown	Counsyl Accession: SCV000220306.2 First in ClinVar: Mar 29, 2015 Last updated: Dec 24, 2022	Publications: PubMed (3) PubMed: 22874498‚ 20104584‚ 22505045
Benign (Jan 02, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Hereditary cancer-predisposing syndrome Affected status: unknown Allele origin: germline	Color Diagnostics, LLC DBA Color Health Accession: SCV000683383.3 First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024
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: SCV000145987.1 First in ClinVar: Apr 04, 2014 Last updated: Apr 04, 2014	Observation 1: Number of individuals with the variant: 15 Observation 2: Number of individuals with the variant: 1 Geographic origin: Latin American, Caribbean Observation 3: Number of individuals with the variant: 16 Ethnicity/Population group: African Observation 4: Number of individuals with the variant: 3 Ethnicity/Population group: African American Observation 5: Number of individuals with the variant: 1 Ethnicity/Population group: African, Latin American, Caribbean Observation 6: Number of individuals with the variant: 1 Ethnicity/Population group: Asian, Latin American, Caribbean Observation 7: Number of individuals with the variant: 4 Ethnicity/Population group: Latin American, Caribbean Observation 8: Number of individuals with the variant: 5 Ethnicity/Population group: Western European Observation 9: Number of individuals with the variant: 1 Ethnicity/Population group: Western European, Latin American, Caribbe Observation 10: Number of individuals with the variant: 1 Ethnicity/Population group: Western European, Native American
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: SCV000591651.2 First in ClinVar: Jun 28, 2015 Last updated: Apr 13, 2021	Comment: The c.-11C>T variant was identified in the literature in 8/5532 proband chromosomes in individuals with breast cancer, and was absent in 148 control chromosomes evaluated … (more) The c.-11C>T variant was identified in the literature in 8/5532 proband chromosomes in individuals with breast cancer, and was absent in 148 control chromosomes evaluated (Borg_2010_20104584, Diez_2003_12955716, Fackenthal_2005_15744044). The variant is located in the 5â€šÃ„Ã´ untranslated region (promoter) and is not part of a splicing consensus sequence. It is possible that this variant may influence the binding of transcription factors and expression or processing of the BRCA2 mRNA transcript. The c.-11C>T variant was also identified in dbSNP (ID#:rs76874770), the BIC database (48X with unknown clinical significance), and in UMD (22X as an unclassified variant). In the UMD database, the variant was observed to co-occur with another BRCA2 pathogenic mutation (c.6159delT (p.Ala2054LeufsX16)) increasing the likelihood that this variant may not have clinical significance. The variant was listed in the 1000 Genomes Project with a frequency 0.005, and in the NHLBI Exome Sequencing Project with a frequency of 0.02 in African American alleles, increasing the likelihood that this may be a benign variant in certain populations of origin. In summary, based on the above information, this variant meets our laboratory's criteria to be 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: SCV001905906.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 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: SCV001958715.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021
Benign (Mar 02, 2020)	no assertion criteria provided Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: yes Allele origin: germline	BRCAlab, Lund University Accession: SCV004243814.1 First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024
Benign (-)	no assertion criteria provided Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: yes Allele origin: germline	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV000733205.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018
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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:

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.

Comment:

The c.-11C>T variant was identified in the literature in 8/5532 proband chromosomes in individuals with breast cancer, and was absent in 148 control chromosomes evaluated (Borg_2010_20104584, Diez_2003_12955716, Fackenthal_2005_15744044). The variant is located in the 5â€šÃ„Ã´ untranslated region (promoter) and is not part of a splicing consensus sequence. It is possible that this variant may influence the binding of transcription factors and expression or processing of the BRCA2 mRNA transcript. The c.-11C>T variant was also identified in dbSNP (ID#:rs76874770), the BIC database (48X with unknown clinical significance), and in UMD (22X as an unclassified variant). In the UMD database, the variant was observed to co-occur with another BRCA2 pathogenic mutation (c.6159delT (p.Ala2054LeufsX16)) increasing the likelihood that this variant may not have clinical significance. The variant was listed in the 1000 Genomes Project with a frequency 0.005, and in the NHLBI Exome Sequencing Project with a frequency of 0.02 in African American alleles, increasing the likelihood that this may be a benign variant in certain populations of origin. In summary, based on the above information, this variant meets our laboratory's criteria to be classified as 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:

Citations for germline classification of this variant

Title	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
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
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
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
EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.	Caux-Moncoutier V	Human mutation	2011	PMID: 21120943
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
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.	Díez O	Human mutation	2003	PMID: 12955716
Inherited BRCA2 mutations in African Americans with breast and/or ovarian cancer: a study of familial and early onset cases.	Kanaan Y	Human genetics	2003	PMID: 12942367
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA2	-	-	-	-

Text-mined citations for rs76874770 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 25, 2024

ClinVar Genomic variation as it relates to human health

NM_000059.4(BRCA2):c.-11C>T

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs76874770 ...