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NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(4);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Sep 25, 2021)
Last evaluated:
Aug 23, 2021
Accession:
VCV000127889.10
Variation ID:
127889
Description:
single nucleotide variant
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NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)

Allele ID
133346
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q12
Genomic location
17: 35107055 (GRCh38) GRCh38 UCSC
17: 33434074 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.33434074T>C
NC_000017.11:g.35107055T>C
NG_031858.1:g.17815A>G
... more HGVS
Protein change
N138S, N158S
Other names
p.N138S:AAT>AGT
Canonical SPDI
NC_000017.11:35107054:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00007
Trans-Omics for Precision Medicine (TOPMed) 0.00014
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
The Genome Aggregation Database (gnomAD) 0.00025
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00019
Links
ClinGen: CA287977
dbSNP: rs201676898
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 Jun 17, 2021 RCV000212959.3
Likely benign 1 criteria provided, single submitter Aug 23, 2021 RCV001582579.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Feb 16, 2019 RCV000115815.11
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 8, 2020 RCV000232930.8
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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
17 1132
RAD51L3-RFFL - - - GRCh38 - 1108

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 16, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000185137.6
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
(Jun 17, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000149724.15
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Observed in individuals with a personal or family history including breast, ovarian, prostate, and other cancers (Johnson 2014, Ring 2016, Tung 2015, Shindo 2017, Sanchez-Bermudez … (more)
Uncertain significance
(Jul 05, 2016)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 4
Allele origin: unknown
Counsyl
Accession: SCV000488855.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (2)
Uncertain significance
(Aug 01, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
GeneKor MSA
Accession: SCV000822179.1
Submitted: (Aug 08, 2018)
Evidence details
Likely benign
(Dec 23, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000910644.1
Submitted: (Nov 06, 2018)
Evidence details
Likely benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 4
Allele origin: germline
Invitae
Accession: SCV000287711.8
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Likely benign
(Aug 23, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001821358.1
Submitted: (Sep 01, 2021)
Evidence details
Publications
PubMed (6)
Comment:
Variant summary: RAD51D c.413A>G (p.Asn138Ser) results in a conservative amino acid change located in the AAA+ ATPase domain of the encoded protein sequence. Four of … (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
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations. Tsaousis GN BMC cancer 2019 PMID: 31159747
Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain). Sánchez-Bermúdez AI European journal of medical genetics 2018 PMID: 29409816
Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma. Shindo K Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 PMID: 28767289
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
Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. Ring KL Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2016 PMID: 27443514
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Tung N Cancer 2015 PMID: 25186627
Mutational landscape of candidate genes in familial prostate cancer. Johnson AM The Prostate 2014 PMID: 25111073

Text-mined citations for rs201676898...

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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 Dec 04, 2021