Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
May 15, 2020
Accession:
VCV000143015.6
Variation ID:
143015
Description:
2bp deletion
Help

NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs)

Allele ID
152729
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
5q31.1
Genomic location
5: 132604020-132604021 (GRCh38) GRCh38 UCSC
5: 131939712-131939713 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_312:g.52044_52045del
LRG_312t1:c.2498_2499del LRG_312p1:p.Gln833fs
NM_005732.3:c.2498_2499del
... more HGVS
Protein change
Q833fs
Other names
-
Canonical SPDI
NC_000005.10:132604019:AA:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00004
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Exome Aggregation Consortium (ExAC) 0.00006
The Genome Aggregation Database (gnomAD) 0.00006
Links
ClinGen: CA170031
dbSNP: rs587782895
VarSome
Help

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 May 15, 2020 RCV000132534.9
Pathogenic 1 criteria provided, single submitter Jan 15, 2018 RCV000662958.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 15, 2018)
criteria provided, single submitter
Method: clinical testing
Nijmegen breakage syndrome-like disorder
Allele origin: unknown
Counsyl
Accession: SCV000785928.2
Submitted: (Jun 20, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Dec 06, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000187631.6
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The c.2498_2499delAA pathogenic mutation, located in coding exon 15 of the RAD50 gene, results from a deletion of two nucleotides at nucleotide positions 2498 to … (more)
Pathogenic
(May 15, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Invitae
Accession: SCV000548004.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Gln833Argfs*11) in the RAD50 gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. Lin PH Oncotarget 2016 PMID: 26824983
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

Text-mined citations for rs587782895...

Help
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