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NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
5 (Most recent: Sep 9, 2021)
Last evaluated:
Sep 8, 2016
Accession:
VCV000054460.3
Variation ID:
54460
Description:
single nucleotide variant
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NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)

Allele ID
69127
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43093426 (GRCh38) GRCh38 UCSC
17: 41245443 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41245443A>C
NC_000017.11:g.43093426A>C
NG_005905.2:g.124558T>G
... more HGVS
Protein change
L702*, L655*
Other names
-
Canonical SPDI
NC_000017.11:43093425:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA001394
dbSNP: rs80357298
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 reviewed by expert panel Sep 8, 2016 RCV000111771.2
Pathogenic 1 criteria provided, single submitter Jan 19, 2020 RCV001383911.1
Pathogenic 1 criteria provided, single submitter Dec 19, 2019 RCV001661795.1
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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
12270 12437

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 08, 2016)
reviewed by expert panel
Method: curation
Breast-ovarian cancer, familial 1
Allele origin: germline
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000299700.2
Submitted: (Sep 13, 2016)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Likely pathogenic
(Dec 06, 2017)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: unknown
Counsyl
Accession: SCV000785811.2
Submitted: (Jun 20, 2018)
Evidence details
Pathogenic
(Jan 19, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV001583239.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Leu702*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Dec 19, 2019)
criteria provided, single submitter
Method: curation
Breast-ovarian cancer, familial 1
Breast-ovarian cancer, familial 2
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Research and Development, ARUP Laboratories
Accession: SCV001878934.1
Submitted: (Sep 09, 2021)
Evidence details
Publications
PubMed (1)
Other databases
https://arup.utah.edu/database/B…
Pathogenic
(Nov 25, 2004)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144302.1
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
BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls. Li A Gynecologic oncology 2018 PMID: 30078507
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
https://arup.utah.edu/database/BRCA/Variants/BRCA1.php - - - -

Text-mined citations for rs80357298...

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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 Sep 18, 2021