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NM_005732.4(RAD50):c.1677C>T (p.His559=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000186084.7
Variation ID:
186084
Description:
single nucleotide variant
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NM_005732.4(RAD50):c.1677C>T (p.His559=)

Allele ID
182569
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.1
Genomic location
5: 132591918 (GRCh38) GRCh38 UCSC
5: 131927610 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.131927610C>T
NC_000005.10:g.132591918C>T
NM_005732.4:c.1677C>T MANE Select NP_005723.2:p.His559= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:132591917:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Trans-Omics for Precision Medicine (TOPMed) 0.00027
The Genome Aggregation Database (gnomAD) 0.00022
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00008
Links
dbSNP: rs142619269
ClinGen: CA333891
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 25, 2020 RCV000165613.9
Likely benign 1 criteria provided, single submitter Oct 15, 2020 RCV001264505.1
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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
Likely benign
(Oct 15, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001442691.1
Submitted: (Nov 10, 2020)
Evidence details
Likely benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Invitae
Accession: SCV000253457.8
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Sep 04, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000216347.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs142619269...

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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