VCV000126122.8 - ClinVar

NM_000059.4(BRCA2):c.6841+80_6841+83del

Germline

Reviewed by expert panel

Reviewed by expert panel. Learn more about how ClinVar calculates review status.

Benign

for Breast-ovarian cancer, familial 2

Classification is based on the expert panel submission

Jan 2015 by Evidence-based Network for the Interpretation of Germline M…

The classification is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000059.4(BRCA2):c.6841+80_6841+83del

Variation ID: 126122 Accession: VCV000126122.8

Type and length

Deletion, 4 bp

Location

Cytogenetic: 13q13.1 13: 32341274-32341277 (GRCh38) [ NCBI UCSC ] 13: 32915411-32915414 (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	Dec 11, 2022	Jan 12, 2015

HGVS

Nucleotide	Protein	Molecular consequence
NM_000059.4:c.6841+80_6841+83del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.		intron variant
NM_000059.3:c.6841+78_6841+81delAATT
NM_000059.3:c.6841+80_6841+83delTTAA		intron variant
NC_000013.11:g.32341276_32341279del
NC_000013.10:g.32915413_32915416del
NG_012772.3:g.30797_30800del
NG_012772.3:g.30797_30800delTTAA
LRG_293:g.30797_30800del
LRG_293t1:c.6841+80_6841+83del
U43746.1:n.7069+80_7069+83delTTAA

... more HGVS ... less HGVS

Protein change

Other names

IVS11+80del4
IVS11+80delTTAA
IVS11+79del4
IVS 11+78del4

Canonical SPDI

NC_000013.11:32341273:AATTAA:AA

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.

0.26577 (AA)

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

Links

Breast Cancer Information Core (BIC) (BRCA2): 7069+79&base_change=del 4 Breast Cancer Information Core (BIC) (BRCA2): 7069+80&base_change=del TTAA ClinGen: CA024495 dbSNP: rs11571661 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	19745	19907

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 (4)	reviewed by expert panel	Jan 12, 2015	RCV000113661.15
Familial cancer of breast	not provided (1)	no classification provided	-	RCV000114980.11
not specified	Uncertain significance (3)	criteria provided, single submitter	Apr 20, 2017	RCV000496478.11
Hereditary cancer-predisposing syndrome	Benign (1)	criteria provided, single submitter	Mar 10, 2015	RCV000580757.11
not provided	Benign (1)	criteria provided, single submitter	Mar 3, 2015	RCV001682797.9

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) C Contributing to aggregate classification	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: SCV000245037.1 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 0.38 (Asian), 0.18 (African), 0.29 (European), derived from 1000 genomes (2012-04-30).
Uncertain significance (Apr 20, 2017) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not specified Affected status: unknown Allele origin: germline	Department of Pathology and Molecular Medicine, Queen's University Study: The Canadian Open Genetics Repository (COGR) Accession: SCV000588111.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017
Benign (Dec 03, 2017) N Not contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: yes Allele origin: inherited	Genomic Research Center, Shahid Beheshti University of Medical Sciences Accession: SCV000746281.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018	Geographic origin: Iran
Benign (Mar 03, 2015) N Not contributing to aggregate classification	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV001899714.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021
Benign (Mar 10, 2015) N Not contributing to aggregate classification	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: SCV000683818.2 First in ClinVar: Feb 19, 2018 Last updated: Dec 11, 2022
Benign (Oct 09, 2014) N Not contributing to aggregate classification	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: SCV000743324.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018
Uncertain significance (Dec 17, 2010) N Not contributing to aggregate classification	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: SCV000146954.1 First in ClinVar: Apr 04, 2014 Last updated: Apr 04, 2014	Observation 1: Number of individuals with the variant: 1 Observation 2: Number of individuals with the variant: 224 Geographic origin: Austria
Benign (-) N Not contributing to aggregate classification	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: SCV001905761.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021
Benign (-) N Not contributing to aggregate classification	no assertion criteria provided Method: clinical testing	not specified 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: SCV001965936.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021
untested (-) N Not contributing to aggregate classification	no classification provided Method: not provided	Familial cancer of breast Affected status: not provided Allele origin: somatic	Genomic Research Center, Shahid Beheshti University of Medical Sciences Accession: SCV000148881.1 First in ClinVar: May 08, 2014 Last updated: May 08, 2014	Comment: Converted during submission to not provided.

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

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs11571661 ...

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 Mar 16, 2025

ClinVar Genomic variation as it relates to human health

NM_000059.4(BRCA2):c.6841+80_6841+83del

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs11571661 ...