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NM_005732.4(RAD50):c.687del (p.Ser229fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 5, 2020
Accession:
VCV000185010.6
Variation ID:
185010
Description:
1bp deletion
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NM_005732.4(RAD50):c.687del (p.Ser229fs)

Allele ID
182523
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
5q31.1
Genomic location
5: 132579997 (GRCh38) GRCh38 UCSC
5: 131915689 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.132579997del
NC_000005.9:g.131915689del
NG_021151.1:g.28074del
... more HGVS
Protein change
S229fs
Other names
-
Canonical SPDI
NC_000005.10:132579996:T:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00042
The Genome Aggregation Database (gnomAD), exomes 0.00046
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00028
The Genome Aggregation Database (gnomAD) 0.00041
Links
ClinGen: CA190771
dbSNP: rs760146707
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 5, 2020 RCV000164362.6
Likely pathogenic 1 criteria provided, single submitter Jun 13, 2016 RCV000409900.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RAD50 - - GRCh38
GRCh37
2185 2611

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 13, 2016)
criteria provided, single submitter
Method: clinical testing
Nijmegen breakage syndrome-like disorder
Allele origin: unknown
Counsyl
Accession: SCV000488545.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (4)
Pathogenic
(Mar 28, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000214996.5
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (8)
Comment:
The c.687delT pathogenic mutation, located in coding exon 5 of the RAD50 gene, results from a deletion of one nucleotide at nucleotide position 687, causing … (more)
Pathogenic
(Oct 05, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Invitae
Accession: SCV000628316.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change deletes 1 nucleotide from exon 5 of the RAD50 mRNA (c.687delT), causing a frameshift at codon 229. This creates a premature translational … (more)

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
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
Germline variants in MRE11/RAD50/NBN complex genes in childhood leukemia. Mosor M BMC cancer 2013 PMID: 24093751
RAD50 and NBS1 are not likely to be susceptibility genes in Chinese non-BRCA1/2 hereditary breast cancer. He M Breast cancer research and treatment 2012 PMID: 21811815
RAD50 gene mutations are not likely a risk factor for breast cancer in Poland. Mosor M Breast cancer research and treatment 2010 PMID: 20571869
Some common mutations of RAD50 and NBS1 in western populations do not contribute significantly to Chinese non-BRCA1/2 hereditary breast cancer. Cao AY Breast cancer research and treatment 2010 PMID: 19904603
Rad50 c.687delT does not contribute significantly to familial breast cancer in a French population. Uhrhammer N Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009 PMID: 19190165
Breast cancer susceptibility: current knowledge and implications for genetic counselling. Ripperger T European journal of human genetics : EJHG 2009 PMID: 19092773
RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Heikkinen K Carcinogenesis 2006 PMID: 16474176
Evaluation of RAD50 in familial breast cancer predisposition. Tommiska J International journal of cancer 2006 PMID: 16385572
Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility. Heikkinen K Journal of medical genetics 2003 PMID: 14684699

Text-mined citations for rs760146707...

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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 Nov 27, 2021