ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
Variation ID: 55656 Accession: VCV000055656.30
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43124032 (GRCh38) [ NCBI UCSC ] 17: 41276049 (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 Apr 1, 2014 May 1, 2024 Aug 10, 2015 - HGVS
- ... more HGVS ... less HGVS
- Protein change
- L22S
- Other names
- 184T>C
- Canonical SPDI
- NC_000017.11:43124031:A:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- functionally_abnormal Sequence Ontology [SO:0002218]
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.65T>C, a MISSENSE variant, produced a function score of -2.11, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
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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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Allele frequency
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The frequency of the allele represented by this VCV record.
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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
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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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
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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 |
12876 | 14661 |
Conditions - Germline
Condition
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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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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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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Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Sep 10, 2023 | RCV000049081.18 | |
Pathogenic (8) |
reviewed by expert panel
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Aug 10, 2015 | RCV000083224.19 | |
Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Apr 28, 2023 | RCV000162704.21 | |
Pathogenic/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Sep 20, 2023 | RCV000479212.11 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Nov 5, 2021 | RCV003313774.8 |
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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Pathogenic
(Aug 10, 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: SCV000244409.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on … (more)
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.99 (less)
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326372.4
First in ClinVar: Sep 29, 2015 Last updated: Dec 11, 2022 |
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Likely pathogenic
(Dec 14, 2017)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000916786.1
First in ClinVar: Jun 03, 2019 Last updated: Jun 03, 2019 |
Comment:
Variant summary: The BRCA1 c.65T>C (p.Leu22Ser) variant involves the alteration of a conserved nucleotide located in the Zinc finger, RING/FYVE/PHD-type (InterPro). 5/5 in silico tools … (more)
Variant summary: The BRCA1 c.65T>C (p.Leu22Ser) variant involves the alteration of a conserved nucleotide located in the Zinc finger, RING/FYVE/PHD-type (InterPro). 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 245708 control chromosomes, and has been reported in numerous affected individuals in the literature. Additionally, functional evidence has shown the variant to result in reduced HDR levels (Starita_2015). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as likely pathogenic. (less)
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Pathogenic
(Jun 01, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000912062.4
First in ClinVar: May 20, 2019 Last updated: Jan 08, 2022 |
Comment:
This missense variant replaces leucine with serine at codon 22 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on … (more)
This missense variant replaces leucine with serine at codon 22 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Functional studies have shown that this variant results in loss of homology-directed recombination activity of BRCA1 protein (PMID: 25823446, 30219179, 30696104) and disrupts BARD1 binding activity (PMID: 30696104). This variant has been reported to cause loss of BRCA1 function in a haploid cell proliferation assay (PMID: 30209399). This variant has been reported in multiple individuals affected with breast and/or ovarian cancer (PMID: 9609997, 19543972, 27741520, 29907814, 32380732, 32438681) and pancreatic cancer (PMID: 29506128). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Likely pathogenic
(Jun 17, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002537882.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The BRCA1 c.65T>C (p.L22S) variant has been reported in heterozygosity in at least 6 individuals with hereditary breast and/or ovarian cancer (PMID: 9609997, 19543972, 27741520, … (more)
The BRCA1 c.65T>C (p.L22S) variant has been reported in heterozygosity in at least 6 individuals with hereditary breast and/or ovarian cancer (PMID: 9609997, 19543972, 27741520, 29339979, 29907814) and 5 individuals who underwent BRCA testing with unknown clinical phenotype (PMID 29446198). Functional studies have shown that this variant alters the BRCA1 function in homology-directed DNA repair and high throughput genome editing haploid cell survival assays (PMID: 25823446, 30209399). This variant is not reported in the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654). Based on the current evidence available, this variant is interpreted as likely pathogenic. (less)
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Pathogenic
(Dec 22, 2014)
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criteria provided, single submitter
Method: literature only
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Breast-ovarian cancer, familial 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000220976.2
First in ClinVar: Mar 29, 2015 Last updated: Dec 24, 2022 |
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Likely pathogenic
(Nov 05, 2021)
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criteria provided, single submitter
Method: research
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Infant-type hemispheric glioma
Affected status: yes
Allele origin:
maternal
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Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
Accession: SCV004012925.1
First in ClinVar: Jul 22, 2023 Last updated: Jul 22, 2023 |
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Likely pathogenic
(Jul 01, 2015)
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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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Department of Medical Genetics, Oslo University Hospital
Accession: SCV000564345.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Number of individuals with the variant: 2
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Likely pathogenic
(Sep 20, 2023)
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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: SCV000568441.8
First in ClinVar: Apr 27, 2017 Last updated: Sep 30, 2023 |
Comment:
Published functional studies suggest a damaging effect based on E3 ubiquitin ligase ability, HDR activity, colony size, and liquid medium function, while other functional assays … (more)
Published functional studies suggest a damaging effect based on E3 ubiquitin ligase ability, HDR activity, colony size, and liquid medium function, while other functional assays demonstrated BARD1 binding, spot formation, and yeast localization comparable to wild-type (Starita et al., 2015; Thouvenot et al., 2016; Findlay et al., 2018; Starita et al., 2018); Observed in individuals with a personal and/or family history of breast, ovarian, and/or pancreatic cancer (Katagiri et al., 1998; Sweet et al., 2010; Couch et al., 2015; Fernandes et al., 2016; Pilato et al., 2016; Lilyquist et al., 2017; Santonocito et al., 2020; Lowery et al., 2018; Hovland et al., 2022); Multifactorial studies suggest this variant is associated with breast and ovarian cancer (Sweet et al., 2010; Lindor et al., 2012; Valle et al., 2012); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as 184T>C; This variant is associated with the following publications: (PMID: 27225819, 25452441, 18951461, 24489791, 19543972, 25525159, 21990165, 24281179, 22753008, 9609997, 27272900, 25823446, 28408614, 27741520, 29339979, 29506128, 29907814, 29446198, 30219179, 30209399, 33087888, Paquette[article]2021, 35659930, 34572941, 34906479, 24389207, 20104584, 35534113, 34981296, 28888541, 32438681, 21990134) (less)
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Pathogenic
(Dec 16, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV004219470.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
In the published literature, the variant has been reported as being pathogenic in the published literature (PMID: 19543972 (2010), 21990134 (2012), and 21990165 (2012)). Internal … (more)
In the published literature, the variant has been reported as being pathogenic in the published literature (PMID: 19543972 (2010), 21990134 (2012), and 21990165 (2012)). Internal analysis of published breast and ovarian cancer cases revealed an enrichment of the variant in cases compared to general population controls (PMID: 9609997 (1998), 25452441 (2015), and 29907814 (2018)). Comprehensive functional studies indicated that this variant is damaging to E3 ubiquitin-ligase activity of the BRCA1 protein (PMID: 25823446 (2015)), while another study utilizing a yeast model yielded inconclusive predictions on the effect of the variant on BRCA1 protein function (PMID: 27272900 (2016)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, this variant is classified as pathogenic. (less)
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Likely pathogenic
(Sep 10, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000077094.10
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 22 of the BRCA1 protein (p.Leu22Ser). … (more)
This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 22 of the BRCA1 protein (p.Leu22Ser). This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 21990134, 25823446, 30209399). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 55656). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 9609997, 19543972, 25452441, 28888541, 30339520, 32438681). (less)
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Pathogenic
(Dec 14, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004823704.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This missense variant replaces leucine with serine at codon 22 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on … (more)
This missense variant replaces leucine with serine at codon 22 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Functional studies have shown that this variant results in loss of homology-directed recombination activity of BRCA1 protein (PMID: 25823446, 30219179, 30696104) and disrupts BARD1 binding activity (PMID: 30696104). This variant has been reported to cause loss of BRCA1 function in a haploid cell proliferation assay (PMID: 30209399). This variant has been reported in multiple individuals affected with breast and/or ovarian cancer (PMID: 9609997, 19543972, 27741520, 29907814, 32380732, 32438681) and pancreatic cancer (PMID: 29506128). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Pathogenic. (less)
Number of individuals with the variant: 1
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Likely pathogenic
(Apr 28, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000213164.8
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
The p.L22S variant (also known as c.65T>C), located in coding exon 1 of the BRCA1 gene, results from a T to C substitution at nucleotide … (more)
The p.L22S variant (also known as c.65T>C), located in coding exon 1 of the BRCA1 gene, results from a T to C substitution at nucleotide position 65. The leucine at codon 22 is replaced by serine, an amino acid with dissimilar properties. This variant has been reported in Japanese, Ashkenazi Jewish, Brazilian, German, Norwegian, and Italian HBOC families (Katagiri T et al. J. Hum. Genet. 1998;43:42-8; Sweet K et al. Breast Cancer Res. Treat. 2010 Feb;119:737–43; Fernandes GC et al. Oncotarget, 2016 Dec;7:80465-80481; Heramb C et al. Hered Cancer Clin Pract, 2018 Jan;16:3; Rebbeck TR et al. Hum Mutat. 2018 May;39(5):593-620; Palmero EI et al. Sci Rep, 2018 Jun;8:9188). This alteration has been classified as definitely pathogenic (p>0.99) by multifactorial analysis, which integrates the following lines of evidence to produce a quantitative likelihood of pathogenicity: in silico prediction models, segregation with disease, tumor characteristics, and mutation co-occurrence (Easton DF et al. Am. J. Hum. Genet. 2007 Nov;81:873-83; Lindor NM et al. Hum. Mutat. 2012 Jan;33:8-21; Vallee MP et al. Hum. Mutat. 2012 Jan;33:22-8). One functional study found that this nucleotide substitution is deleterious in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). Of note, this alteration is also designated as 184T>C in published literature. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the majority of available evidence to date, this variant is likely to be pathogenic. (less)
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Uncertain significance
(Nov 25, 2004)
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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:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144166.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Central/Eastern European
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Uncertain significance
(Oct 22, 2009)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000115298.3
First in ClinVar: Feb 06, 2014 Last updated: Sep 27, 2014 |
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not provided
(-)
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no classification provided
Method: in vitro
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Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
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Brotman Baty Institute, University of Washington
Accession: SCV001242257.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-2.10667578876765
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Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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functionally_abnormal
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Method citation(s):
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Brotman Baty Institute, University of Washington
Accession: SCV001242257.1
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Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.65T>C, a MISSENSE variant, produced a function score of -2.11, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.65T>C, a MISSENSE variant, produced a function score of -2.11, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing. | Patruno M | Cancers | 2021 | PMID: 34572941 |
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome. | Santonocito C | Cancers | 2020 | PMID: 32438681 |
Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes. | Incorvaia L | Cancers | 2020 | PMID: 32380732 |
GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes. | Caleca L | Cancers | 2019 | PMID: 30696104 |
Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing. | Slavin TP | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2018 | PMID: 30339520 |
A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function. | Starita LM | American journal of human genetics | 2018 | PMID: 30219179 |
Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
The germline mutational landscape of BRCA1 and BRCA2 in Brazil. | Palmero EI | Scientific reports | 2018 | PMID: 29907814 |
BRCAmut and "founder effect": a prospective study in a single academic institution. | Loizzi V | Oncotarget | 2018 | PMID: 29854283 |
Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms. | Lowery MA | Journal of the National Cancer Institute | 2018 | PMID: 29506128 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. | Heramb C | Hereditary cancer in clinical practice | 2018 | PMID: 29339979 |
Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls. | Lilyquist J | Gynecologic oncology | 2017 | PMID: 28888541 |
Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. | Fernandes GC | Oncotarget | 2016 | PMID: 27741520 |
BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report. | Pilato B | Genes, chromosomes & cancer | 2016 | PMID: 27225819 |
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. | Starita LM | Genetics | 2015 | PMID: 25823446 |
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. | Couch FJ | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2015 | PMID: 25452441 |
Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation. | Whiley PJ | PloS one | 2014 | PMID: 24489791 |
Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. | Vallée MP | Human mutation | 2012 | PMID: 21990165 |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | Lindor NM | Human mutation | 2012 | PMID: 21990134 |
Characterization of BRCA1 ring finger variants of uncertain significance. | Sweet K | Breast cancer research and treatment | 2010 | PMID: 19543972 |
High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. | Katagiri T | Journal of human genetics | 1998 | PMID: 9609997 |
http://hci-exlovd.hci.utah.edu/variants.php?select_db=BRCA1&action=search_all&search_Variant%2FDNA=c.65T%3EC | - | - | - | - |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
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Text-mined citations for rs80357438 ...
HelpRecord last updated May 01, 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.