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NM_005732.4(RAD50):c.217G>A (p.Ala73Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 24, 2020
Accession:
VCV000230217.6
Variation ID:
230217
Description:
single nucleotide variant
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NM_005732.4(RAD50):c.217G>A (p.Ala73Thr)

Allele ID
233249
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.1
Genomic location
5: 132575780 (GRCh38) GRCh38 UCSC
5: 131911472 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.132575780G>A
NC_000005.9:g.131911472G>A
NG_021151.1:g.23857G>A
... more HGVS
Protein change
A73T
Other names
-
Canonical SPDI
NC_000005.10:132575779:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA3404941
dbSNP: rs371122101
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 24, 2020 RCV000220496.8
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000764572.1
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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
2185 2611

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Nijmegen breakage syndrome-like disorder
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000895663.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Jan 11, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000273680.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.A73T variant (also known as c.217G>A), located in coding exon 3 of the RAD50 gene, results from a G to A substitution at nucleotide … (more)
Uncertain significance
(Oct 24, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Invitae
Accession: SCV000548054.7
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces alanine with threonine at codon 73 of the RAD50 protein (p.Ala73Thr). The alanine residue is highly 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
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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs371122101...

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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 Nov 27, 2021