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NM_005732.4(RAD50):c.1636-9del

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 25, 2018)
Last evaluated:
May 24, 2016
Accession:
VCV000496309.1
Variation ID:
496309
Description:
1bp deletion
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NM_005732.4(RAD50):c.1636-9del

Allele ID
487128
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
5q31.1
Genomic location
5: 132591859 (GRCh38) GRCh38 UCSC
5: 131927551 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.132591868del
NC_000005.9:g.131927560del
NM_005732.4:c.1636-9del MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:132591858:TTTTTTTTTT:TTTTTTTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA3405221
dbSNP: rs762814289
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 May 24, 2016 RCV000588305.1
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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
(May 24, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698641.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The RAD50 c.1636-9delT variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. … (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 rs762814289...

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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