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NM_005732.4(RAD50):c.-38=

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 26, 2018)
Last evaluated:
Oct 23, 2013
Accession:
VCV000182824.1
Variation ID:
182824
Description:
single nucleotide variant
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NM_005732.4(RAD50):c.-38=

Allele ID
180235
Variant type
single nucleotide variant
Variant length
-
Cytogenetic location
5q31.1
Genomic location
5: 132557287 (GRCh38) GRCh38 UCSC
5: 131892979 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.132557287=
NC_000005.9:g.131892979=
NM_005732.4:c.-38= MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:132557286:G:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.07508 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.07703
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.08127
The Genome Aggregation Database (gnomAD), exomes 0.02091
Exome Aggregation Consortium (ExAC) 0.02477
The Genome Aggregation Database (gnomAD) 0.06963
1000 Genomes Project 0.07508
Links
ClinGen: CA299854
dbSNP: rs4526098
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Oct 23, 2013 RCV000160912.1
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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
2167 2592

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 23, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000211612.10
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)

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 rs4526098...

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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 Feb 27, 2021