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NM_007294.3(BRCA1):c.5194-18G>T

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Aug 5, 2021)
Last evaluated:
Jul 18, 2021
Accession:
VCV000125803.6
Variation ID:
125803
Description:
single nucleotide variant
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NM_007294.3(BRCA1):c.5194-18G>T

Allele ID
131341
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43057153 (GRCh38) GRCh38 UCSC
17: 41209170 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41209170C>A
NC_000017.11:g.43057153C>A
NM_007297.4:c.5053-18G>T
... more HGVS
Protein change
-
Other names
IVS19-18G>T
Canonical SPDI
NC_000017.11:43057152:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00005
1000 Genomes Project 0.00060
Trans-Omics for Precision Medicine (TOPMed) 0.00021
The Genome Aggregation Database (gnomAD) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00005
Links
Breast Cancer Information Core (BIC) (BRCA1): 5313-18&base_change=G to T
ClinGen: CA003344
dbSNP: rs80358090
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 Jun 1, 2016 RCV000112557.2
Likely benign 1 criteria provided, single submitter Dec 2, 2020 RCV000200417.8
Likely benign 1 criteria provided, single submitter Jan 5, 2016 RCV000579447.1
Likely benign 1 criteria provided, single submitter Jul 18, 2021 RCV000781030.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
12270 12437

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 01, 2016)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: unknown
Counsyl
Accession: SCV000488724.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (3)
Likely benign
(Jan 05, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000683269.1
Submitted: (Oct 26, 2017)
Evidence details
Likely benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000253512.8
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jul 18, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918795.2
Submitted: (Aug 05, 2021)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: BRCA1 c.5194-18G>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly … (more)
Uncertain significance
(Apr 02, 1998)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145386.1
Submitted: (Mar 28, 2014)
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
High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. Fackenthal JD International journal of cancer 2012 PMID: 22034289
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. Théry JC European journal of human genetics : EJHG 2011 PMID: 21673748
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. Judkins T Cancer research 2005 PMID: 16267036
Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1. Judkins T Mutation research 2005 PMID: 15829246

Text-mined citations for rs80358090...

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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 Aug 07, 2021