VCV000051698.35 - ClinVar

NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)

Germline

Top reviewed classifications are shown here.

Submission summary:

21 submissions

21 submitters

6 conditions

Reviewed by expert panel

Pathogenic

Sep 2016 by Evidence-based…

for Breast-ovarian cancer, familial, susceptibility to, 2

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)

Variation ID: 51698 Accession: VCV000051698.35

Type and length

Deletion, 2 bp

Location

Cytogenetic: 13q13.1 13: 32326144-32326145 (GRCh38) [ NCBI UCSC ] 13: 32900281-32900282 (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	Sep 27, 2014	Oct 8, 2024	Sep 8, 2016

HGVS

Nucleotide	Protein	Molecular consequence
NM_000059.4:c.469_470del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000050.3:p.Lys157fs	frameshift
NM_000059.3:c.469_470delAA
NC_000013.11:g.32326144_32326145del
NC_000013.10:g.32900281_32900282del
NG_012772.3:g.15665_15666del
LRG_293:g.15665_15666del

... more HGVS ... less HGVS

Protein change

Other names

697delAA

Canonical SPDI

NC_000013.11:32326143: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.

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

Links

ClinGen: CA020654 dbSNP: rs397507739 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	18962	19121

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	Pathogenic (6)	reviewed by expert panel	Sep 8, 2016	RCV000077335.16
Hereditary breast ovarian cancer syndrome	Pathogenic/Likely pathogenic (4)	criteria provided, multiple submitters, no conflicts	Jan 9, 2024	RCV000496533.19
not provided	Pathogenic (7)	criteria provided, multiple submitters, no conflicts	Aug 15, 2023	RCV000509481.21
Hereditary cancer-predisposing syndrome	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	Nov 21, 2022	RCV000565817.16
Familial cancer of breast	Pathogenic (1)	criteria provided, single submitter	Jun 9, 2022	RCV003473346.1
BRCA2-related disorder	Pathogenic (1)	no assertion criteria provided	Jan 5, 2024	RCV004542697.2

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.
Pathogenic (Sep 08, 2016)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015)) Method: curation	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: unknown Allele origin: germline	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Accession: SCV000300325.2 First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016	Comment: Variant allele predicted to encode a truncated non-functional protein.
Likely pathogenic (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Hereditary breast ovarian cancer syndrome Affected status: yes Allele origin: germline	Department of Pathology and Laboratory Medicine, Sinai Health System Study: The Canadian Open Genetics Repository (COGR) Accession: SCV000591685.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017
Pathogenic (Jul 01, 2015)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: yes Allele origin: germline	Department of Medical Genetics, Oslo University Hospital Accession: SCV000605637.3 First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022	Number of individuals with the variant: 3
Pathogenic (Aug 15, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital Accession: SCV002550251.3 First in ClinVar: Jul 30, 2022 Last updated: Aug 18, 2023
Pathogenic (Jun 09, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Familial cancer of breast Affected status: unknown Allele origin: unknown	Baylor Genetics Accession: SCV004212779.1 First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023
Pathogenic (Nov 21, 2022)	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: SCV000673090.6 First in ClinVar: Jan 01, 2018 Last updated: May 01, 2024	Publications: PubMed (6) PubMed: 12491499‚ 19949876‚ 20104584‚ 21553119‚ 26833046‚ 27084275 Comment: The c.469_470delAA pathogenic mutation, located in coding exon 4 of the BRCA2 gene, results from a deletion of two nucleotides at nucleotide positions 469 to … (more) The c.469_470delAA pathogenic mutation, located in coding exon 4 of the BRCA2 gene, results from a deletion of two nucleotides at nucleotide positions 469 to 470, causing a translational frameshift with a predicted alternate stop codon (p.K157Vfs*25). This alteration has been reported in multiple individuals and families with a history of breast, ovarian, and/or prostate cancer (Borg A et al. Hum. Mutat. 2010 Mar; 31(3):E1200-40. Adem C et al. Cancer 2003 Jan; 97(1):1-11; van Harssel JJ et al. Fam. Cancer 2010 Jun; 9(2):193-201; Nielsen HR et al. Fam. Cancer 2016 Feb; Hart SN et al. BMJ Open 2016; 6(4):e010332). Of note, this alteration is also designated as 697delAA in the published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
Pathogenic (May 27, 2024)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: yes Allele origin: germline	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet Accession: SCV005046002.1 First in ClinVar: Jun 02, 2024 Last updated: Jun 02, 2024	Comment: PVS1; PM2_supporting; PM5_PTC_Strong
Pathogenic (Jan 15, 2020)	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: SCV000683645.3 First in ClinVar: Feb 19, 2018 Last updated: Jan 15, 2022	Comment: This variant deletes 2 nucleotides in exon 5 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more) This variant deletes 2 nucleotides in exon 5 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
Pathogenic (Jul 26, 2022)	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: SCV002570763.1 First in ClinVar: Sep 17, 2022 Last updated: Sep 17, 2022	Publications: PubMed (1) PubMed: 29446198 Comment: Variant summary: BRCA2 c.469_470delAA (p.Lys157ValfsX25) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more) Variant summary: BRCA2 c.469_470delAA (p.Lys157ValfsX25) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251040 control chromosomes. c.469_470delAA has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example, Rebbeck_2018). These data indicate that the variant is very likely to be associated with disease. Multiple clinical diagnostic laboratories and an expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
Pathogenic (Oct 02, 2015)	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: unknown Allele origin: germline	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge Accession: SCV000327068.4 First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022
Pathogenic (Dec 01, 2022)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV001780633.2 First in ClinVar: Aug 13, 2021 Last updated: Dec 11, 2022	Comment: Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more) Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 697_698delAA; This variant is associated with the following publications: (PMID: 20104584, 12491499, 27084275, 29339979, 29566657, 29446198, 26833046, 32665702, 21553119, 19949876) (less)
Pathogenic (Mar 05, 2020)	criteria provided, single submitter (Quest Diagnostics criteria) Method: clinical testing	not provided Affected status: unknown Allele origin: unknown	Quest Diagnostics Nichols Institute San Juan Capistrano Accession: SCV001469426.2 First in ClinVar: Jan 26, 2021 Last updated: Jan 06, 2024	Publications: PubMed (7) PubMed: 21553119‚ 20104584‚ 19949876‚ 12491499‚ 29339979‚ 29566657‚ 27084275 Comment: This frameshift variant causes the premature termination of BRCA2 protein synthesis. In addition, it has been reported in individuals affected with prostate cancer, breast cancer, … (more) This frameshift variant causes the premature termination of BRCA2 protein synthesis. In addition, it has been reported in individuals affected with prostate cancer, breast cancer, and ovarian cancer in the published literature (PMID: 27084275 (2015), 21553119 (2012), 20104584 (2010)). Based on the available information, this variant is classified as pathogenic. (less)
Pathogenic (Jan 09, 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: SCV001585122.4 First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024	Publications: PubMed (1) PubMed: 20104584 Comment: This sequence change creates a premature translational stop signal (p.Lys157Valfs25) in the BRCA2 gene. It is expected to result in an absent or disrupted protein … (more) This sequence change creates a premature translational stop signal (p.Lys157Valfs25) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is also known as 697delAA. ClinVar contains an entry for this variant (Variation ID: 51698). For these reasons, this variant has been classified as Pathogenic. (less)
Pathogenic (Jan 05, 2024)	no assertion criteria provided Method: clinical testing	BRCA2-related condition Affected status: unknown Allele origin: germline	PreventionGenetics, part of Exact Sciences Accession: SCV004778560.2 First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024	Comment: The BRCA2 c.469_470delAA variant is predicted to result in a frameshift and premature protein termination (p.Lys157Valfs25). This variant was reported in an individual with breast … (more) The BRCA2 c.469_470delAA variant is predicted to result in a frameshift and premature protein termination (p.Lys157Valfs25). This variant was reported in an individual with breast and prostate cancers (described as c.697delAA, Adem. 2003. PubMed ID: 12491499; Hart. 2016. PubMed ID: 27084275). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted in ClinVar as pathogenic and likely pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/51698/). Frameshift variants in BRCA2 are expected to be pathogenic. This variant is interpreted as pathogenic. (less)
Pathogenic (May 10, 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: SCV000109132.3 First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014
Pathogenic (Jan 31, 2014)	no assertion criteria provided Method: research	Hereditary breast ovarian cancer syndrome Affected status: yes Allele origin: germline	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto Study: The Canadian Open Genetics Repository (COGR) Accession: SCV000587550.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017
Pathogenic (-)	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: SCV001906333.1 First in ClinVar: Sep 23, 2021 Last updated: Sep 23, 2021
Pathogenic (-)	no assertion criteria provided Method: clinical testing	not provided 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: SCV001959658.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021
Pathogenic (-)	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: SCV001965782.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021
Pathogenic (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: SCV004243803.1 First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024
not provided (-)	no classification provided Method: phenotyping only	Not provided Affected status: unknown Allele origin: unknown	GenomeConnect, ClinGen Accession: SCV000607255.1 First in ClinVar: Oct 16, 2017 Last updated: Oct 16, 2017	Comment: GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical … (more) GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. (less) Clinical Features: Gastrointestinal dysmotility (present) Age: 40-49 years Sex: female Method: Variant reported as confirmed, but method not specified. Testing laboratory: Color Genomics, Inc. Date variant was reported to submitter: 2017-05-19 Testing laboratory interpretation: Pathogenic
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Comment:

The c.469_470delAA pathogenic mutation, located in coding exon 4 of the BRCA2 gene, results from a deletion of two nucleotides at nucleotide positions 469 to 470, causing a translational frameshift with a predicted alternate stop codon (p.K157Vfs*25). This alteration has been reported in multiple individuals and families with a history of breast, ovarian, and/or prostate cancer (Borg A et al. Hum. Mutat. 2010 Mar; 31(3):E1200-40. Adem C et al. Cancer 2003 Jan; 97(1):1-11; van Harssel JJ et al. Fam. Cancer 2010 Jun; 9(2):193-201; Nielsen HR et al. Fam. Cancer 2016 Feb; Hart SN et al. BMJ Open 2016; 6(4):e010332). Of note, this alteration is also designated as 697delAA in the published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

Comment:

This variant deletes 2 nucleotides in exon 5 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

Comment:

Variant summary: BRCA2 c.469_470delAA (p.Lys157ValfsX25) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251040 control chromosomes. c.469_470delAA has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example, Rebbeck_2018). These data indicate that the variant is very likely to be associated with disease. Multiple clinical diagnostic laboratories and an expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

Comment:

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 697_698delAA; This variant is associated with the following publications: (PMID: 20104584, 12491499, 27084275, 29339979, 29566657, 29446198, 26833046, 32665702, 21553119, 19949876)

Comment:

This frameshift variant causes the premature termination of BRCA2 protein synthesis. In addition, it has been reported in individuals affected with prostate cancer, breast cancer, and ovarian cancer in the published literature (PMID: 27084275 (2015), 21553119 (2012), 20104584 (2010)). Based on the available information, this variant is classified as pathogenic.

Comment:

This sequence change creates a premature translational stop signal (p.Lys157Valfs*25) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is also known as 697delAA. ClinVar contains an entry for this variant (Variation ID: 51698). For these reasons, this variant has been classified as Pathogenic.

Comment:

The BRCA2 c.469_470delAA variant is predicted to result in a frameshift and premature protein termination (p.Lys157Valfs*25). This variant was reported in an individual with breast and prostate cancers (described as c.697delAA, Adem. 2003. PubMed ID: 12491499; Hart. 2016. PubMed ID: 27084275). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted in ClinVar as pathogenic and likely pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/51698/). Frameshift variants in BRCA2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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
Germline breast cancer susceptibility gene mutations and breast cancer outcomes.	Wang YA	BMC cancer	2018	PMID: 29566657
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.	Rebbeck TR	Human mutation	2018	PMID: 29446198
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.	Heramb C	Hereditary cancer in clinical practice	2018	PMID: 29339979
Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.	Hart SN	BMJ open	2016	PMID: 27084275
BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.	Nielsen HR	Familial cancer	2016	PMID: 26833046
Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.	De Leeneer K	Breast cancer research and treatment	2012	PMID: 21553119
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
Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection.	van Harssel JJ	Familial cancer	2010	PMID: 19949876
Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers.	Adem C	Cancer	2003	PMID: 12491499

Text-mined citations for rs397507739 ...

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 Oct 27, 2024

ClinVar Genomic variation as it relates to human health

NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs397507739 ...