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NM_005732.4(RAD50):c.2563G>T (p.Asp855Tyr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
Oct 23, 2020
Accession:
VCV000141730.13
Variation ID:
141730
Description:
single nucleotide variant
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NM_005732.4(RAD50):c.2563G>T (p.Asp855Tyr)

Allele ID
151444
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.1
Genomic location
5: 132604844 (GRCh38) GRCh38 UCSC
5: 131940536 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.132604844G>T
NC_000005.9:g.131940536G>T
NG_021151.1:g.52921G>T
... more HGVS
Protein change
D855Y
Other names
-
Canonical SPDI
NC_000005.10:132604843:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA166252
dbSNP: rs144911328
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 23, 2020 RCV000130353.12
Uncertain significance 1 criteria provided, single submitter Aug 1, 2017 RCV000585129.3
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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
(May 11, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000185204.6
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.D855Y variant (also known as c.2563G>T), located in coding exon 16 of the RAD50 gene, results from a G to T substitution at nucleotide … (more)
Uncertain significance
(Oct 23, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Invitae
Accession: SCV000548039.7
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces aspartic acid with tyrosine at codon 855 of the RAD50 protein (p.Asp855Tyr). The aspartic acid residue is moderately conserved and there … (more)
Uncertain significance
(Aug 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000693187.10
Submitted: (Jul 04, 2021)
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
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 rs144911328...

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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 Oct 07, 2021