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.2165dup (p.Glu723fs)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Nov 19, 2021)
Last evaluated:
Oct 21, 2020
Accession:
VCV000141045.12
Variation ID:
141045
Description:
1bp duplication
Help

NM_005732.4(RAD50):c.2165dup (p.Glu723fs)

Allele ID
150759
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
5q31.1
Genomic location
5: 132595759-132595760 (GRCh38) GRCh38 UCSC
5: 131931451-131931452 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_005732.4:c.2157dupA MANE Select
NC_000005.10:g.132595768dup
NC_000005.9:g.131931460dup
... more HGVS
Protein change
E723fs
Other names
-
Canonical SPDI
NC_000005.10:132595759:AAAAAAAAA:AAAAAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA333189
dbSNP: rs397507178
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 Oct 21, 2020 RCV000129381.15
Pathogenic 2 criteria provided, single submitter Apr 20, 2016 RCV000500926.5
Pathogenic 1 criteria provided, single submitter Jan 1, 2020 RCV000708625.2
Pathogenic 1 no assertion criteria provided Jun 11, 2019 RCV001271000.1
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
(Dec 21, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000184147.6
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The c.2165dupA pathogenic mutation, located in coding exon 13 of the RAD50 gene, results from a duplication of A at nucleotide position 2165, causing a … (more)
Pathogenic
(Oct 21, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Invitae
Accession: SCV000255302.10
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change creates a premature translational stop signal (p.Glu723Glyfs*5) in the RAD50 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Apr 20, 2016)
criteria provided, single submitter
Method: clinical testing
Nijmegen breakage syndrome-like disorder
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000596683.1
Submitted: (Jul 05, 2017)
Evidence details
Pathogenic
(Jan 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
GeneKor MSA
Accession: SCV000821773.2
Submitted: (Mar 06, 2020)
Evidence details
Comment:
This variant is a duplication of 1 nucleotide in exon 13 of RAD50 mRNA (c.2165dupA). causing a frameshift at codon 723. This creates a premature … (more)
Pathogenic
(Jun 11, 2019)
no assertion criteria provided
Method: case-control
Breast and/or ovarian cancer
Allele origin: germline
CZECANCA consortium
Accession: SCV001451812.1
Submitted: (Jun 13, 2019)
Evidence details
Publications
PubMed (1)
Pathogenic
(Feb 02, 2021)
no assertion criteria provided
Method: clinical testing
Nijmegen breakage syndrome-like disorder
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002019624.1
Submitted: (Nov 19, 2021)
Evidence details

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
Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer. Lhotova K Cancers 2020 PMID: 32295079
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
Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. Lin PH Oncotarget 2016 PMID: 26824983
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
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 rs397507178...

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 28, 2021