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NM_005732.4(RAD50):c.323A>G (p.Lys108Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 7, 2020
Accession:
VCV000216628.7
Variation ID:
216628
Description:
single nucleotide variant
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NM_005732.4(RAD50):c.323A>G (p.Lys108Arg)

Allele ID
212464
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.1
Genomic location
5: 132575886 (GRCh38) GRCh38 UCSC
5: 131911578 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.132575886A>G
NC_000005.9:g.131911578A>G
NM_005732.4:c.323A>G MANE Select NP_005723.2:p.Lys108Arg missense
... more HGVS
Protein change
K108R
Other names
-
Canonical SPDI
NC_000005.10:132575885:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00011
The Genome Aggregation Database (gnomAD), exomes 0.00006
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00004
Links
ClinGen: CA338234
dbSNP: rs542347773
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 7, 2020 RCV000198855.9
Likely benign 1 criteria provided, single submitter Oct 22, 2018 RCV000780665.1
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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
Likely benign
(Oct 22, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918124.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: RAD50 c.323A>G (p.Lys108Arg) results in a conservative amino acid change located in the Rad50/SbcC-type AAA domain of the encoded protein sequence. Three of … (more)
Uncertain significance
(Apr 03, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000663597.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.K108R variant (also known as c.323A>G), located in coding exon 3 of the RAD50 gene, results from an A to G substitution at nucleotide … (more)
Uncertain significance
(Oct 07, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Invitae
Accession: SCV000254897.8
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces lysine with arginine at codon 108 of the RAD50 protein (p.Lys108Arg). The lysine residue is moderately conserved and there is a … (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
The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels. Sung PL PloS one 2017 PMID: 28961279
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

Text-mined citations for rs542347773...

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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