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NM_007294.3(BRCA1):c.5468-10_5468-9del

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Aug 5, 2021)
Last evaluated:
Jul 23, 2021
Accession:
VCV000091652.10
Variation ID:
91652
Description:
2bp microsatellite
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NM_007294.3(BRCA1):c.5468-10_5468-9del

Allele ID
97129
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
17q21.31
Genomic location
17: 43045811-43045812 (GRCh38) GRCh38 UCSC
17: 41197828-41197829 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41197829_41197830GA[1]
NC_000017.11:g.43045812_43045813GA[1]
NM_007297.4:c.5327-10_5327-9del
... more HGVS
Protein change
-
Other names
IVS23-10delCT
Canonical SPDI
NC_000017.11:43045810:AGAGA:AGA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Breast Cancer Information Core (BIC) (BRCA1): 5587-10&base_change=del CT
ClinGen: CA003619
dbSNP: rs273902770
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Oct 8, 2018 RCV000196957.8
Likely benign 1 criteria provided, single submitter Nov 9, 2017 RCV000771308.1
Benign 1 criteria provided, single submitter Dec 7, 2020 RCV001080376.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jul 23, 2021 RCV000478075.5
Conflicting interpretations of pathogenicity 2 no assertion criteria provided Oct 27, 2011 RCV000077169.4
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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
(Sep 07, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000566231.4
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)
Likely benign
(Nov 09, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000903562.1
Submitted: (Nov 06, 2018)
Evidence details
Benign
(Oct 08, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133637.2
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (1)
Benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000253516.8
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jul 23, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699258.4
Submitted: (Aug 05, 2021)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: BRCA1 c.5468-10_5468-9delCT alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered … (more)
Benign
(Oct 27, 2011)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Sharing Clinical Reports Project (SCRP)
Accession: SCV000108966.2
Submitted: (Aug 08, 2013)
Evidence details
Uncertain significance
(Dec 23, 2003)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145528.1
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
BRCA1 and BRCA2 genetic testing in Hispanic patients: mutation prevalence and evaluation of the BRCAPRO risk assessment model. Vogel KJ Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2007 PMID: 17925560

Text-mined citations for rs273902770...

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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