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NM_005732.4(RAD50):c.2670G>A (p.Gln890=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 7, 2020
Accession:
VCV000142441.7
Variation ID:
142441
Description:
single nucleotide variant
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NM_005732.4(RAD50):c.2670G>A (p.Gln890=)

Allele ID
152155
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.1
Genomic location
5: 132604951 (GRCh38) GRCh38 UCSC
5: 131940643 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.132604951G>A
NC_000005.9:g.131940643G>A
NM_005732.4:c.2670G>A MANE Select NP_005723.2:p.Gln890= synonymous
... more HGVS
Protein change
-
Other names
p.Q890Q:CAG>CAA
Canonical SPDI
NC_000005.10:132604950:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00539 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00050
Trans-Omics for Precision Medicine (TOPMed) 0.00225
Exome Aggregation Consortium (ExAC) 0.00067
The Genome Aggregation Database (gnomAD) 0.00188
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00185
1000 Genomes Project 0.00539
Links
ClinGen: CA333261
dbSNP: rs112241748
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Dec 7, 2020 RCV000131562.12
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Mar 30, 2018 RCV000212913.2
Likely benign 1 criteria provided, single submitter Jun 3, 2016 RCV000409233.1
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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
2180 2606

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 03, 2016)
criteria provided, single submitter
Method: clinical testing
Nijmegen breakage syndrome-like disorder
Allele origin: unknown
Counsyl
Accession: SCV000488653.1
Submitted: (Nov 23, 2016)
Evidence details
Benign
(Jan 23, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000211606.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jan 08, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918120.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: The RAD50 c.2670G>A (p.Gln890Gln) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 4/5 splice prediction tools predict no … (more)
Benign
(Nov 29, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000186566.6
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)
Likely benign
(Mar 30, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000860259.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Invitae
Accession: SCV000260570.8
Submitted: (Jan 07, 2021)
Evidence details

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RAD50 - - - -

Text-mined citations for rs112241748...

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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 Jun 14, 2021