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NM_002878.4(RAD51D):c.751A>G (p.Ile251Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 28, 2019
Accession:
VCV000141300.8
Variation ID:
141300
Description:
single nucleotide variant
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NM_002878.4(RAD51D):c.751A>G (p.Ile251Val)

Allele ID
151014
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q12
Genomic location
17: 35101353 (GRCh38) GRCh38 UCSC
17: 33428372 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.35101353T>C
NG_031858.1:g.23517A>G
NR_037714.1:n.503A>G
... more HGVS
Protein change
I251V, I139V, I271V
Other names
-
Canonical SPDI
NC_000017.11:35101352:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA165041
dbSNP: rs540273429
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 Mar 24, 2017 RCV000236753.1
Uncertain significance 1 criteria provided, single submitter Oct 28, 2019 RCV000542443.4
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 12, 2018 RCV000129767.6
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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
(Oct 30, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000184576.6
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Insufficient or conflicting evidence;Other strong data supporting benign classification
Uncertain significance
(Mar 24, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000293833.11
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted RAD51D c.751A>G at the cDNA level, p.Ile251Val (I251V) at the protein level, and results in the change of an Isoleucine to … (more)
Uncertain significance
(Nov 12, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000904087.2
Submitted: (May 19, 2020)
Evidence details
Uncertain significance
(Oct 28, 2019)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 4
Allele origin: germline
Invitae
Accession: SCV000651777.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces isoleucine with valine at codon 251 of the RAD51D protein (p.Ile251Val). The isoleucine residue is weakly 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

Text-mined citations for rs540273429...

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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 30, 2021