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NM_005732.4(RAD50):c.561dup (p.Ala188fs)

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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:
Sep 9, 2020
Accession:
VCV000231180.6
Variation ID:
231180
Description:
1bp duplication
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NM_005732.4(RAD50):c.561dup (p.Ala188fs)

Allele ID
233267
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
5q31.1
Genomic location
5: 132579868-132579869 (GRCh38) GRCh38 UCSC
5: 131915560-131915561 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.132579871dup
NC_000005.9:g.131915563dup
NG_021151.1:g.27948dup
... more HGVS
Protein change
A188fs
Other names
-
Canonical SPDI
NC_000005.10:132579868:AAA:AAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA3405001
dbSNP: rs876659005
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 Sep 9, 2020 RCV000226081.8
Likely pathogenic 1 criteria provided, single submitter Oct 26, 2016 RCV000411533.1
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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
(Oct 26, 2016)
criteria provided, single submitter
Method: clinical testing
Nijmegen breakage syndrome-like disorder
Allele origin: unknown
Counsyl
Accession: SCV000489565.1
Submitted: (Nov 23, 2016)
Evidence details
Pathogenic
(Mar 19, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000274945.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.561dupA pathogenic mutation, located in coding exon 5 of the RAD50 gene, results from a duplication of A at nucleotide position 561, causing a … (more)
Pathogenic
(Sep 09, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Invitae
Accession: SCV000289074.7
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Ala188Serfs*30) in the RAD50 gene. It is expected to result in an absent or disrupted protein … (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
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
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 rs876659005...

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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