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NM_005732.4(RAD50):c.1245+1G>A

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 7, 2020
Accession:
VCV000584474.6
Variation ID:
584474
Description:
single nucleotide variant
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NM_005732.4(RAD50):c.1245+1G>A

Allele ID
575538
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.1
Genomic location
5: 132588881 (GRCh38) GRCh38 UCSC
5: 131924573 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.131924573G>A
NC_000005.10:g.132588881G>A
NM_005732.4:c.1245+1G>A MANE Select splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:132588880:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1561639636
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Aug 7, 2020 RCV001010527.4
Pathogenic 1 criteria provided, single submitter Jan 1, 2020 RCV000708624.2
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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
Pathogenic
(Jan 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
GeneKor MSA
Accession: SCV000821771.2
Submitted: (Mar 06, 2020)
Evidence details
Comment:
This sequence change occurs 1 nucleotides after exon 8 of the RAD50 gene. This position is highly conserved in the human and other genomes and … (more)
Likely pathogenic
(Jul 02, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001170743.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The c.1245+1G>A intronic variant results from a G to A substitution one nucleotide after coding exon 8 of the RAD50 gene. This alteration has been … (more)
Likely pathogenic
(Aug 07, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Invitae
Accession: SCV001232882.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change affects a donor splice site in intron 8 of the RAD50 gene. It is expected to disrupt RNA splicing and likely results … (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
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations. Tsaousis GN BMC cancer 2019 PMID: 31159747
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Waltes R American journal of human genetics 2009 PMID: 19409520
Evaluation of RAD50 in familial breast cancer predisposition. Tommiska J International journal of cancer 2006 PMID: 16385572
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547

Text-mined citations for rs1561639636...

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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 May 10, 2021