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NM_005732.4(RAD50):c.2379A>G (p.Thr793=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 30, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000414951.5
Variation ID:
414951
Description:
single nucleotide variant
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NM_005732.4(RAD50):c.2379A>G (p.Thr793=)

Allele ID
395260
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.1
Genomic location
5: 131939163 (GRCh37) GRCh37 UCSC
5: 132603471 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.132603471A>G
NC_000005.9:g.131939163A>G
NG_021151.1:g.51548A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:132603470:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16611970
dbSNP: rs1060504395
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 31, 2019 RCV000466172.5
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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
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Invitae
Accession: SCV000559108.4
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Oct 25, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000663683.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1060504395...

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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