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NM_005732.4(RAD50):c.494C>A (p.Pro165His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
Sep 19, 2019
Accession:
VCV000126996.3
Variation ID:
126996
Description:
single nucleotide variant
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NM_005732.4(RAD50):c.494C>A (p.Pro165His)

Allele ID
132509
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.1
Genomic location
5: 132579445 (GRCh38) GRCh38 UCSC
5: 131915137 (GRCh37) GRCh37 UCSC
5: 131943036 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.132579445C>A
NC_000005.9:g.131915137C>A
NC_000005.8:g.131943036C>A
... more HGVS
Protein change
P165H
Other names
-
Canonical SPDI
NC_000005.10:132579444:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA230712
dbSNP: rs104895044
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 Sep 19, 2019 RCV000536422.2
not provided 1 no assertion provided - RCV000114862.1
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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
Uncertain significance
(Feb 28, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Invitae
Accession: SCV000628301.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces proline with histidine at codon 165 of the RAD50 protein (p.Pro165His). The proline residue is highly conserved and there is a … (more)
Uncertain significance
(Sep 19, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001185168.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.P165H variant (also known as c.494C>A), located in coding exon 4 of the RAD50 gene, results from a C to A substitution at nucleotide … (more)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: unknown
Harris Lab, University of Minnesota
Accession: SCV000148757.1
Submitted: (May 01, 2012)
Evidence details

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
Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID. Offer SM PloS one 2010 PMID: 20805886

Text-mined citations for rs104895044...

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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 Jan 25, 2021