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NM_007294.4(BRCA1):c.-20+11C>T

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Oct 15, 2021)
Last evaluated:
Dec 1, 2020
Accession:
VCV000125464.8
Variation ID:
125464
Description:
single nucleotide variant
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NM_007294.4(BRCA1):c.-20+11C>T

Allele ID
131002
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43125260 (GRCh38) GRCh38 UCSC
17: 41277277 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_292:g.92724C>T
LRG_292t1:c.-20+11C>T
NC_000017.10:g.41277277G>A
... more HGVS
Protein change
-
Other names
IVS1+11C>T
Canonical SPDI
NC_000017.11:43125259:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00049
The Genome Aggregation Database (gnomAD) 0.00045
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD), exomes 0.00044
Links
Breast Cancer Information Core (BIC) (BRCA1): 100+11&base_change=C to T
ClinGen: CA001340
dbSNP: rs273898672
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter Oct 25, 2016 RCV000111489.2
Benign 1 criteria provided, single submitter Jan 23, 2014 RCV000123934.5
Benign 1 criteria provided, single submitter Dec 1, 2020 RCV000860869.3
Likely benign 1 no assertion criteria provided - RCV001353442.1
Likely benign 3 no assertion criteria provided - RCV001689635.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
12291 12459
LOC111589215 - - - GRCh38 - 118

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 23, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000167321.11
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV001001040.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Oct 25, 2016)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: unknown
Counsyl
Accession: SCV000489588.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (2)
Uncertain significance
(Jun 22, 1999)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000143931.1
Submitted: (Mar 28, 2014)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
Malignant tumor of breast
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: SCV000591226.2
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The c.-20+11C>T variant was not identified in the literature. It was reported in the dbSNP database (ID: rs273898672) but no frequency data was provided and … (more)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
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: SCV001906446.1
Submitted: (Sep 20, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001952085.1
Submitted: (Sep 30, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
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: SCV001978335.1
Submitted: (Oct 15, 2021)
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
Low incidence of BRCA1 mutations among Italian families with breast and ovarian cancer. Santarosa M International journal of cancer 1998 PMID: 9808526
Germ-line BRCA1 mutations in selected men with prostate cancer. Langston AA American journal of human genetics 1996 PMID: 8644752

Text-mined citations for rs273898672...

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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 Oct 16, 2021