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NM_007294.3(BRCA1):c.135-20T>G

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 14, 2020
Accession:
VCV000125566.7
Variation ID:
125566
Description:
single nucleotide variant
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NM_007294.3(BRCA1):c.135-20T>G

Allele ID
131104
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43106553 (GRCh38) GRCh38 UCSC
17: 41258570 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.43106553A>C
NC_000017.10:g.41258570A>C
NM_007299.4:c.135-20T>G
... more HGVS
Protein change
-
Other names
IVS4-20T>G
Canonical SPDI
NC_000017.11:43106552:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA000896
dbSNP: rs80358025
Breast Cancer Information Core (BIC) (BRCA1): 254-20&base_change=T to G
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 Apr 18, 2016 RCV000590037.3
Likely benign 1 criteria provided, single submitter Oct 14, 2020 RCV001079166.2
Likely benign 1 criteria provided, single submitter Feb 17, 2015 RCV001176885.1
Uncertain significance 1 no assertion criteria provided - RCV000111859.1
Benign 1 no assertion criteria provided Sep 1, 2019 RCV001171476.1
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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
12287 12455

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 18, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698851.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: The c.135-20T>G variant affects a non-conserved intronic nucleotide resulting in intronic change at a position not widely known to affect splicing. Mutation Taster … (more)
Likely benign
(Feb 17, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001340967.1
Submitted: (May 19, 2020)
Evidence details
Likely benign
(Oct 14, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV001090593.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 01, 2019)
no assertion criteria provided
Method: research
not specified
Allele origin: germline
King Laboratory,University of Washington
Accession: SCV001251391.1
Submitted: (Mar 06, 2020)
Comment:
Transcript analysis by cBROCA
Evidence details
Publications
PubMed (1)
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144431.1
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
Characterization of splice-altering mutations in inherited predisposition to cancer. Casadei S Proceedings of the National Academy of Sciences of the United States of America 2019 PMID: 31843900
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

Text-mined citations for rs80358025...

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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