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NM_007294.4(BRCA1):c.671-8A>G

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Interpretation:
Conflicting interpretations of pathogenicity​

Uncertain significance(3); Benign(4); Likely benign(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
10
First in ClinVar:
Apr 4, 2014
Most recent Submission:
Dec 11, 2022
Last evaluated:
Jan 6, 2022
Accession:
VCV000136539.17
Variation ID:
136539
Description:
single nucleotide variant
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NM_007294.4(BRCA1):c.671-8A>G

Allele ID
140242
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43094868 (GRCh38) GRCh38 UCSC
17: 41246885 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_007294.4:c.671-8A>G MANE Select
NM_007297.4:c.530-8A>G
NM_007298.3:c.671-8A>G
... more HGVS
Protein change
-
Other names
IVS10-8A>G
Canonical SPDI
NC_000017.11:43094867:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00009
Exome Aggregation Consortium (ExAC) 0.00012
The Genome Aggregation Database (gnomAD), exomes 0.00008
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
1000 Genomes Project 0.00020
Links
Breast Cancer Information Core (BIC) (BRCA1): 790-8&base_change=A to G
ClinGen: CA003807
dbSNP: rs80358144
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Jun 23, 2017 RCV000112769.5
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jan 6, 2022 RCV000580371.4
Benign 2 criteria provided, single submitter Mar 26, 2016 RCV000588347.5
Benign 1 criteria provided, single submitter Dec 8, 2021 RCV001087483.6
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Apr 12, 2019 RCV000123888.6
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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
13277 13461

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Benign
(Mar 26, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699288.1
First in ClinVar: Mar 17, 2018
Last updated: Mar 17, 2018
Publications:
PubMed (1)
PubMed: 16267036
Comment:
Variant Summary: The c.671-8A>G variant involves the alteration of a non-conserved nucleotide resulting in an intronic change. This variant is located at a position that … (more)
Uncertain significance
(May 04, 2017)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV001284087.1
First in ClinVar: May 31, 2020
Last updated: May 31, 2020
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Apr 12, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Affected status: no
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV002072426.1
First in ClinVar: Jan 29, 2022
Last updated: Jan 29, 2022
Benign
(Dec 08, 2021)
criteria provided, single submitter
Method: clinical testing
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000252822.8
First in ClinVar: Oct 11, 2015
Last updated: May 16, 2022
Likely benign
(Jan 06, 2022)
criteria provided, single submitter
Method: curation
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin: germline
Sema4,Sema4
Accession: SCV002537887.1
First in ClinVar: Jun 24, 2022
Last updated: Jun 24, 2022
Publications:
PubMed (2)
PubMed: 2848017832467295
Benign
(Oct 12, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin: germline
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683345.2
First in ClinVar: Feb 19, 2018
Last updated: Dec 11, 2022
Benign
(Dec 30, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000167233.11
First in ClinVar: Jun 20, 2014
Last updated: Feb 24, 2015
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)
Uncertain significance
(Jun 23, 2017)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000785272.2
First in ClinVar: Apr 04, 2014
Last updated: Apr 04, 2014
Publications:
PubMed (4)
PubMed: 28364669281114271626703628480178
Uncertain significance
(Feb 20, 2004)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145661.1
First in ClinVar: Apr 04, 2014
Last updated: Apr 04, 2014
Number of individuals with the variant: 3
Ethnicity/Population group: Asian
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Affected status: yes
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: SCV001552352.1
First in ClinVar: Apr 13, 2021
Last updated: Apr 13, 2021
Number of individuals with the variant: 1

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
Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population. Dong H Journal of medical genetics 2021 PMID: 32467295
Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results. Park HS Annals of surgical treatment and research 2017 PMID: 28480178
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea. Ryu JM Breast (Edinburgh, Scotland) 2017 PMID: 28364669
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls. Park JS Cancer research and treatment 2017 PMID: 28111427
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 rs80358144...

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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 Jan 21, 2023