ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4097-141A>C
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4097-141A>C
Variation ID: 125674 Accession: VCV000125674.7
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091173 (GRCh38) [ NCBI UCSC ] 17: 41243190 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline May 8, 2014 Sep 29, 2024 Jan 12, 2015 - HGVS
- ... more HGVS ... less HGVS
- Protein change
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- Other names
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IVS12-141A>C
IVS 11-141A>C
- Canonical SPDI
- NC_000017.11:43091172:T:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.49760 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Trans-Omics for Precision Medicine (TOPMed) 0.45481
1000 Genomes Project 0.50240
1000 Genomes Project 30x 0.50406
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13040 | 14846 | |
LOC126862571 | - | - | - | GRCh38 | - | 1651 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Benign (3) |
reviewed by expert panel
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Jan 12, 2015 | RCV000112254.6 | |
not provided (1) |
no classification provided
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- | RCV000114977.4 | |
Benign (2) |
criteria provided, single submitter
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Nov 1, 2017 | RCV000585641.3 | |
Benign (2) |
criteria provided, multiple submitters, no conflicts
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Jun 23, 2018 | RCV001682794.3 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Benign
(Jan 12, 2015)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000244743.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Comment:
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2846 (African), 0.3681 (European), derived from 1000 genomes (2012-04-30).
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Benign
(Oct 09, 2014)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743397.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018 |
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Benign
(Nov 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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GeneKor MSA
Accession: SCV000693613.1
First in ClinVar: Mar 04, 2018 Last updated: Mar 04, 2018 |
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Benign
(Jun 23, 2018)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV001903432.1
First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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Benign
(-)
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criteria provided, single submitter
Method: not provided
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not provided
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Breakthrough Genomics, Breakthrough Genomics
Accession: SCV005251053.1
First in ClinVar: Sep 29, 2024 Last updated: Sep 29, 2024 |
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Uncertain significance
(Aug 07, 2009)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
unknown
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144975.2
First in ClinVar: Apr 04, 2014 Last updated: Sep 29, 2015 |
Observation 1:
Number of individuals with the variant: 3
Ethnicity/Population group: Chinese
Geographic origin: Malaysia
Observation 2:
Number of individuals with the variant: 3
Ethnicity/Population group: Indian
Geographic origin: Malaysia
Observation 3:
Number of individuals with the variant: 3
Ethnicity/Population group: Malay
Geographic origin: Malaysia
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001906215.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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untested
(-)
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no classification provided
Method: not provided
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Familial cancer of breast
Affected status: not provided
Allele origin:
somatic
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Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV000148877.1
First in ClinVar: May 08, 2014 Last updated: May 08, 2014 |
Comment:
Converted during submission to not provided.
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Germline Functional Evidence
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 germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs799916 ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.