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NM_002878.4(RAD51D):c.481-5T>G

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 24, 2021)
Last evaluated:
Aug 31, 2020
Accession:
VCV000182859.9
Variation ID:
182859
Description:
single nucleotide variant
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NM_002878.4(RAD51D):c.481-5T>G

Allele ID
180801
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q12
Genomic location
17: 35106486 (GRCh38) GRCh38 UCSC
17: 33433505 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.33433505A>C
NC_000017.11:g.35106486A>C
NG_031858.1:g.18384T>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:35106485:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA299935
dbSNP: rs374382703
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 11, 2020 RCV000649694.5
Likely benign 1 criteria provided, single submitter Feb 8, 2020 RCV001704151.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 31, 2020 RCV000160948.8
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RAD51D Some evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
11 1123
RAD51L3-RFFL - - - GRCh38 - 1105

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 31, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000215088.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
RNA Studies
Likely benign
(Feb 08, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000211655.9
Submitted: (Sep 24, 2021)
Evidence details
Uncertain significance
(Apr 03, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000904089.2
Submitted: (May 19, 2020)
Evidence details
Uncertain significance
(Aug 11, 2020)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 4
Allele origin: germline
Invitae
Accession: SCV000771526.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change falls in intron 5 of the RAD51D gene. It does not directly change the encoded amino acid sequence of the RAD51D protein. … (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

Text-mined citations for rs374382703...

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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 20, 2021