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NM_000059.3(BRCA2):c.3451A>G (p.Ile1151Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Mar 31, 2021)
Last evaluated:
Sep 23, 2020
Accession:
VCV000051467.9
Variation ID:
51467
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.3451A>G (p.Ile1151Val)

Allele ID
66135
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32337806 (GRCh38) GRCh38 UCSC
13: 32911943 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32911943A>G
NC_000013.11:g.32337806A>G
NM_000059.3:c.3451A>G NP_000050.2:p.Ile1151Val missense
... more HGVS
Protein change
I1151V
Other names
3679A>G
Canonical SPDI
NC_000013.11:32337805:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
ClinGen: CA018064
dbSNP: rs80358591
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 23, 2020 RCV000044197.6
Uncertain significance 1 criteria provided, single submitter Feb 23, 2018 RCV000502245.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jan 17, 2020 RCV000214609.3
Uncertain significance 3 no assertion criteria provided Aug 22, 2013 RCV000113178.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
14102 14215

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 23, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000916861.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: BRCA2 c.3451A>G (p.Ile1151Val) alters a non-conserved nucleotide resulting in a conservative amino acid change in the BRCA2 repeat region (IPR002093) of the encoded … (more)
Uncertain significance
(Jan 17, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000906682.2
Submitted: (May 19, 2020)
Comment:
This missense variant replaces isoleucine with valine at codon 1151 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure … (more)
Evidence details
Likely benign
(Mar 17, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000277208.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Other strong data supporting benign classification
Uncertain significance
(Sep 23, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000072210.7
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces isoleucine with valine at codon 1151 of the BRCA2 protein (p.Ile1151Val). The isoleucine residue is weakly conserved and there is a … (more)
Uncertain significance
(Oct 29, 2001)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000146236.1
Submitted: (Mar 28, 2014)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
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: SCV000591862.2
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The BRCA2 p.Ile1151Val variant was not identified in the literature, nor was it identified in the NHLBI Exome Sequencing Project (Exome Variant Server: 1000 Genomes), … (more)
Uncertain significance
(Aug 22, 2013)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Sharing Clinical Reports Project (SCRP)
Accession: SCV000297519.1
Submitted: (Mar 23, 2015)
Evidence details

Functional evidence

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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 this variant

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Title Author Journal Year Link
The breast cancer information core: database design, structure, and scope. Szabo C Human mutation 2000 PMID: 10923033

Text-mined citations for rs80358591...

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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 Jun 14, 2021