ClinVar Genomic variation as it relates to human health
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
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.
Uncertain significance(12); Likely benign(7)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
Variation ID: 127886 Accession: VCV000127886.56
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q12 17: 35119588 (GRCh38) [ NCBI UCSC ] 17: 33446607 (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 Jul 1, 2016 Apr 15, 2024 Feb 6, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_002878.4:c.26G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_002869.3:p.Cys9Ser missense NM_001142571.1:c.26G>C NM_001142571.2:c.26G>C NP_001136043.1:p.Cys9Ser missense NM_133629.3:c.26G>C NP_598332.1:p.Cys9Ser missense NR_037711.2:n.171G>C non-coding transcript variant NR_037712.2:n.171G>C non-coding transcript variant NC_000017.11:g.35119588C>G NC_000017.10:g.33446607C>G NG_031858.1:g.5282G>C NG_054719.1:g.3010C>G LRG_516:g.5282G>C LRG_516t1:c.26G>C LRG_516p1:p.Cys9Ser - Protein change
- C9S
- Other names
- p.C9S:TGC>TCC
- Canonical SPDI
- NC_000017.11:35119587:C: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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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00035
Trans-Omics for Precision Medicine (TOPMed) 0.00042
The Genome Aggregation Database (gnomAD), exomes 0.00037
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00069
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
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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RAD51D | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
26 | 1748 | |
RAD51L3-RFFL | - | - | - | GRCh38 | - | 1728 |
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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Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
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Sep 9, 2021 | RCV000115812.19 | |
Conflicting interpretations of pathogenicity (5) |
criteria provided, conflicting classifications
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Feb 1, 2024 | RCV000231466.25 | |
Conflicting interpretations of pathogenicity (5) |
criteria provided, conflicting classifications
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Oct 9, 2023 | RCV000587404.30 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
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Feb 6, 2024 | RCV001175378.11 | |
Uncertain significance (1) |
no assertion criteria provided
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- | RCV001357793.3 | |
Uncertain significance (1) |
criteria provided, single submitter
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Mar 8, 2023 | RCV001798342.5 | |
Uncertain significance (1) |
criteria provided, single submitter
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Nov 20, 2023 | RCV003389691.5 | |
Likely benign (1) |
criteria provided, single submitter
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Jan 23, 2024 | RCV003492494.1 |
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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Uncertain significance
(Dec 16, 2019)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 4
Affected status: no
Allele origin:
germline
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Division of Medical Genetics, University of Washington
Study: CSER_CHARM
Accession: SCV001434312.1 First in ClinVar: Oct 01, 2020 Last updated: Oct 01, 2020 |
Comment:
This variant has been reported in the literature in individuals with breast and/or ovarian cancer (Wickramanayake 2012, Gutierrez-EnrÃquez 2014, Song 2015). This variant has an … (more)
This variant has been reported in the literature in individuals with breast and/or ovarian cancer (Wickramanayake 2012, Gutierrez-EnrÃquez 2014, Song 2015). This variant has an allele frequency of 0.0004 in the Broad Institute gnomAD Browser (https://gnomad.broadinstitute.org/). In silico analyses indicate this is an evolutionarily conserved residue. Thus, it is unknown at this time whether this variant increases cancer risk. PP3 (less)
Indication for testing: Family history of ovarian cancer
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Likely benign
(Jan 07, 2020)
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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: SCV000537513.5
First in ClinVar: Sep 24, 2016 Last updated: Jan 12, 2022 |
Comment:
This missense variant replaces cysteine with serine at codon 9 of the RAD51D protein. Computational prediction suggests that this variant may not impact protein structure … (more)
This missense variant replaces cysteine with serine at codon 9 of the RAD51D protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has been observed in individuals affected with breast and/or ovarian cancer (PMID: 21822267, 22986143, 24130102, 24139550, 26261251), cervical cancer (PMID: 31007844) and healthy controls and unaffected individuals (PMID: 21822267, 26261251; FLOSSIES database at https://whi.color.com/variant/17-33446607-C-G). This variant has been identified in 113/278930 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
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Uncertain significance
(Sep 09, 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: SCV002534788.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Uncertain significance
(Oct 21, 2022)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 4
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV003799801.2
First in ClinVar: Feb 13, 2023 Last updated: Mar 04, 2023 |
Comment:
The RAD51D c.26G>C; p.Cys9Ser variant (rs140825795; ClinVar Variation ID: 127886), has been previously reported in several ovarian cancer cohort (selected references: Wickramanayake 2012 and Song … (more)
The RAD51D c.26G>C; p.Cys9Ser variant (rs140825795; ClinVar Variation ID: 127886), has been previously reported in several ovarian cancer cohort (selected references: Wickramanayake 2012 and Song 2015), but in many cases has was also identified in control populations (Weitzel 2019). This variant is found in the general population with an overall allele frequency of 0.04% (113/278,930 alleles) in the Genome Aggregation Database. The cysteine at codon 9 is moderately conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.218). Based on the available information, the clinical significance of this variant is uncertain References: Song et al. Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population. J Clin Oncol. 2015 Sep 10;33(26):2901-7. PMID: 26261251 Weitzel et al. Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer. Cancer. 2019 Aug 15;125(16):2829-2836. PMID: 31206626 Wickramanayake et al. Loss of function germline mutations in RAD51D in women with ovarian carcinoma. Gynecol Oncol. 2012 Dec;127(3):552-5. PMID: 22986143 (less)
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Likely benign
(May 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698094.4
First in ClinVar: Mar 17, 2018 Last updated: Jun 24, 2023 |
Comment:
Variant summary: RAD51D c.26G>C (p.Cys9Ser) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign … (more)
Variant summary: RAD51D c.26G>C (p.Cys9Ser) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00037 in 258298 control chromosomes in the gnomAD database, including 1 homozygote. The observed variant frequency is approximately 3 fold of the estimated maximal expected allele frequency for a pathogenic variant in RAD51D causing Hereditary Breast And Ovarian Cancer Syndrome phenotype (0.00013), strongly suggesting that the variant is benign. c.26G>C, has been reported in the literature in individuals affected with Breast and Ovarian Cancer or other cancers and also in controls (example, Wickramanyake_2012, Gutirrez-Enrquez_2013, Loveday_2011, Golmard_2013, Song_2015, Yurgelun_2017, Tung_2015, Madeddu_2019, Weitzel_2019). In addition, this variant has been reported in 10/9884 individuals who are at least 70 years old and cancer-free in the FLOSSIES database. At-least two co-occurrences with other pathogenic variant(s) have been observed at our laboratory (BRCA1 c.5266dup, p.Gln1756fs) and reported in the literature (BRCA2 c.5851_5854del, p.Ser1951Trpfs*11, Tung_2015), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 25340522, 24139550, 24130102, 21822267, 31007844, 26261251, 25186627, 31206626, 22986143, 28135145). Multiple clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation: three classified the variant as likely benign while twelve classified the variant as a VUS. Some submitters cite overlapping evidence utilized in the context of this evaluation. Based on the evidence outlined above, the variant was classified as likely benign. (less)
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Uncertain significance
(Nov 03, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002010056.3
First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023 |
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Uncertain significance
(Apr 06, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 4
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004017720.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
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Uncertain significance
(Oct 09, 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: SCV000149721.20
First in ClinVar: May 17, 2014 Last updated: Nov 25, 2023 |
Comment:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22986143, … (more)
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22986143, 28135145, 21822267, 24130102, 26261251, 24139550, 25340522, 27498913, 25186627, 29522266, 31007844, 34117267, 33471991, 36315097, 31206626, 34923718, 35264596, 21111057) (less)
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Likely benign
(Aug 18, 2023)
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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: SCV000602155.6
First in ClinVar: Sep 28, 2017 Last updated: Jan 06, 2024 |
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Likely benign
(Jan 23, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV000839205.3
First in ClinVar: Oct 10, 2018 Last updated: Feb 04, 2024 |
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Uncertain significance
(Mar 08, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV002043216.2
First in ClinVar: Jan 01, 2022 Last updated: Feb 04, 2024 |
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Likely benign
(Feb 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 4
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000287702.11
First in ClinVar: Jul 01, 2016 Last updated: Feb 14, 2024 |
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Uncertain significance
(Nov 20, 2023)
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criteria provided, single submitter
Method: clinical testing
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RAD51D-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV000806577.3
First in ClinVar: Sep 13, 2018 Last updated: Mar 16, 2024 |
Comment:
The RAD51D c.26G>C variant is predicted to result in the amino acid substitution p.Cys9Ser. This variant has been reported in patients with ovarian or breast … (more)
The RAD51D c.26G>C variant is predicted to result in the amino acid substitution p.Cys9Ser. This variant has been reported in patients with ovarian or breast cancer, but also in controls (Wickramanayake et al. 2012. PubMed ID: 22986143; Gutiérrez-Enríquez et al. 2014. PubMed ID: 24130102; Song et al. 2015. PubMed ID: 26261251; Loveday et al. 2011. PubMed ID: 21822267, supplementary table 4; Golmard et al. 2013. PubMed ID: 24139550, table S3). This variant has been documented in the gnomAD general population database with a subpopulation minor allele frequency of ~0.07% among individuals of non-Finnish European descent and is listed in ClinVar with conflicting interpretations of pathogenicity including likely benign and uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/127886/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (less)
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Uncertain significance
(May 29, 2018)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000861249.1
First in ClinVar: Sep 13, 2018 Last updated: Sep 13, 2018 |
Number of individuals with the variant: 1
Sex: mixed
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Uncertain significance
(Oct 12, 2021)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: no
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV002071956.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
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Likely benign
(Mar 26, 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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Ambry Genetics
Accession: SCV000185831.7
First in ClinVar: Aug 06, 2014 Last updated: Nov 29, 2022 |
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
Number of individuals with the variant: 1
|
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Uncertain significance
(Jun 09, 2016)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 4
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000488471.2
First in ClinVar: Jul 01, 2016 Last updated: Dec 24, 2022 |
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Uncertain significance
(Feb 06, 2024)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV004242788.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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Likely benign
(Jul 01, 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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV004009783.6
First in ClinVar: Jul 16, 2023 Last updated: Apr 15, 2024 |
Comment:
RAD51D: BP4, BS2
Number of individuals with the variant: 2
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Uncertain significance
(-)
|
no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
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: SCV001553375.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The RAD51D p.Cys9Ser variant was identified in 9 of 12002 proband chromosomes (frequency: 0.0007) from Spanish, British and American individuals or families with BRCA1/2 negative … (more)
The RAD51D p.Cys9Ser variant was identified in 9 of 12002 proband chromosomes (frequency: 0.0007) from Spanish, British and American individuals or families with BRCA1/2 negative breast/ovarian cancer or ovarian cancer and was identified in 3 of 7674 chromosomes from healthy individuals (Gutierrez-Enriquez 2013, Loveday 2011, Wickramanayake 2012, Song 2015). A case-control study of 3,429 patients with invasive ovarian cancer (unselected for family history) and 2,772 controls sequenced for RAD51B/C/D mutations found that RAD51C and RAD51D are moderate ovarian cancer susceptibility genes (Song 2015). The variant was identified in dbSNP (ID: rs140825795) “With Uncertain significance allele”, ClinVar (classified uncertain significance by GeneDx, Ambry Genetics, Invitae, Counsyl, Color Genomics Inc. and Quest Diagnostics Nichols Institute San Juan Capistrano), Clinvitae (3x), and was not identified in Cosmic or LOVD 3.0. The variant was also identified in control databases in 109 (1 homozygous) of 273460 chromosomes at a frequency of 0.0004 (Genome Aggregation Database Feb 27, 2017). It was observed in the following populations: African in 4 of 23938 chromosomes (freq: 0.0002), “Other” in 2 of 6436 chromosomes (freq: 0.0003), Latino in 13 (1 homozygous) of 34392 chromosomes (freq: 0.0004), European Non-Finnish in 88 of 124366 chromosomes (freq: 0.0007), European Finnish in 2 of 24602 chromosomes (freq: 0.00008); it was not observed in the Ashkenazi Jewish, East Asian, and South Asian populations. The p.Cys9Ser residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. (less)
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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
HelpTitle | Author | Journal | Year | Link |
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Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations. | Miyashita M | Breast cancer research : BCR | 2023 | PMID: 37231433 |
Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil. | Pereira JZ | Molecular biology reports | 2022 | PMID: 35980532 |
A decade of RAD51C and RAD51D germline variants in cancer. | Boni J | Human mutation | 2022 | PMID: 34923718 |
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study. | Li N | NPJ breast cancer | 2021 | PMID: 34117267 |
Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis. | Sandoval RL | PloS one | 2021 | PMID: 33606809 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario. | Lerner-Ellis J | Journal of cancer research and clinical oncology | 2021 | PMID: 32885271 |
Outcome of Targeted Therapy Recommendations for Metastatic and Recurrent Head and Neck Cancers. | Taghizadeh H | Cancers | 2020 | PMID: 33203166 |
Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer. | Weitzel JN | Cancer | 2019 | PMID: 31206626 |
Next generation sequencing driven successful combined treatment with laparoscopic surgery and immunotherapy for relapsed stage IVB cervical and synchronous stage IV lung cancer. | Madeddu C | Oncotarget | 2019 | PMID: 31007844 |
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. | Bonache S | Journal of cancer research and clinical oncology | 2018 | PMID: 30306255 |
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers. | Pritchard AL | PloS one | 2018 | PMID: 29641532 |
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. | Hauke J | Cancer medicine | 2018 | PMID: 29522266 |
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. | Yurgelun MB | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2017 | PMID: 28135145 |
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population. | Song H | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2015 | PMID: 26261251 |
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. | Tung N | Cancer | 2015 | PMID: 25186627 |
Germline mutations in MAP3K6 are associated with familial gastric cancer. | Gaston D | PLoS genetics | 2014 | PMID: 25340522 |
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants. | Gutiérrez-Enríquez S | International journal of cancer | 2014 | PMID: 24130102 |
Germline mutation in the RAD51B gene confers predisposition to breast cancer. | Golmard L | BMC cancer | 2013 | PMID: 24139550 |
Loss of function germline mutations in RAD51D in women with ovarian carcinoma. | Wickramanayake A | Gynecologic oncology | 2012 | PMID: 22986143 |
Germline mutations in RAD51D confer susceptibility to ovarian cancer. | Loveday C | Nature genetics | 2011 | PMID: 21822267 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RAD51D | - | - | - | - |
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Text-mined citations for rs140825795 ...
HelpRecord last updated Apr 20, 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.