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NM_005732.4(RAD50):c.2525T>C (p.Val842Ala)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 7, 2020
Accession:
VCV000128005.8
Variation ID:
128005
Description:
single nucleotide variant
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NM_005732.4(RAD50):c.2525T>C (p.Val842Ala)

Allele ID
133462
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.1
Genomic location
5: 132604806 (GRCh38) GRCh38 UCSC
5: 131940498 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.131940498T>C
NC_000005.10:g.132604806T>C
NM_005732.4:c.2525T>C MANE Select NP_005723.2:p.Val842Ala missense
... more HGVS
Protein change
V842A
Other names
p.V842A:GTT>GCT
Canonical SPDI
NC_000005.10:132604805:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00013
Exome Aggregation Consortium (ExAC) 0.00016
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
The Genome Aggregation Database (gnomAD), exomes 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00026
Links
ClinGen: CA331871
UniProtKB: Q92878#VAR_029170
dbSNP: rs28903093
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 19, 2014 RCV000212917.1
Likely benign 1 criteria provided, single submitter Oct 5, 2020 RCV001264454.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 7, 2020 RCV000115941.17
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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
Uncertain significance
(Feb 19, 2014)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000149850.12
Submitted: (Jan 29, 2019)
Evidence details
Comment:
RAD50 has been only recently described in association with cancer predisposition and the risks are not well understood. This variant is denoted RAD50 c.2525T>C at … (more)
Likely benign
(Oct 05, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001442620.1
Submitted: (Nov 10, 2020)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: RAD50 c.2525T>C (p.Val842Ala) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign … (more)
Uncertain significance
(Dec 31, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000186667.6
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.V842A variant (also known as c.2525T>C), located in coding exon 16 of the RAD50 gene, results from a T to C substitution at nucleotide … (more)
Likely benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Invitae
Accession: SCV000254889.9
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)

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
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
Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study. Damiola F Breast cancer research : BCR 2014 PMID: 24894818
Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma. Schuetz JM BMC medical genetics 2009 PMID: 19917125
Evaluation of RAD50 in familial breast cancer predisposition. Tommiska J International journal of cancer 2006 PMID: 16385572

Text-mined citations for rs28903093...

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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