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NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 14, 2020
Accession:
VCV000005872.7
Variation ID:
5872
Description:
single nucleotide variant
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NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)

Allele ID
20911
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.1
Genomic location
5: 132618182 (GRCh38) GRCh38 UCSC
5: 131953874 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_312:g.66206C>T
LRG_312t1:c.3277C>T LRG_312p1:p.Arg1093Ter
NC_000005.10:g.132618182C>T
... more HGVS
Protein change
R1093*
Other names
-
Canonical SPDI
NC_000005.10:132618181:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
OMIM: 604040.0001
dbSNP: rs121912628
ClinGen: CA117821
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 14, 2020 RCV000575384.5
Likely pathogenic 2 criteria provided, single submitter Jul 19, 2017 RCV000006230.3
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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
2180 2606

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 19, 2017)
criteria provided, single submitter
Method: clinical testing
Nijmegen breakage syndrome-like disorder
Allele origin: unknown
Counsyl
Accession: SCV000785384.2
Submitted: (Jun 20, 2018)
Evidence details
Publications
PubMed (4)
Pathogenic
(Feb 18, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000663600.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.R1093* pathogenic mutation (also known as c.3277C>T), located in coding exon 21 of the RAD50 gene, results from a C to T substitution at … (more)
Pathogenic
(Oct 14, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Invitae
Accession: SCV000829513.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Arg1093*) in the RAD50 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(May 01, 2009)
no assertion criteria provided
Method: literature only
NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER
Allele origin: germline
OMIM
Accession: SCV000026412.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies. Trubicka J BMC cancer 2017 PMID: 28376765
Patterns and functional implications of rare germline variants across 12 cancer types. Lu C Nature communications 2015 PMID: 26689913
Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways. Keimling M FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011 PMID: 21778326
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Waltes R American journal of human genetics 2009 PMID: 19409520
Evaluation of RAD50 in familial breast cancer predisposition. Tommiska J International journal of cancer 2006 PMID: 16385572
Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child. Barbi G American journal of medical genetics 1991 PMID: 1887849

Text-mined citations for rs121912628...

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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 Oct 08, 2021