NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (5 submissions)
Last evaluated:: Oct 9, 2023
Review status:: criteria provided, conflicting classifications

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000587404.30

Allele description [Variation Report for NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)]

NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)

Genes:

RAD51D:RAD51 paralog D [Gene - OMIM - HGNC]
RAD51L3-RFFL:RAD51L3-RFFL readthrough [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)

Other names:

p.C9S:TGC>TCC

HGVS:

NC_000017.11:g.35119588C>G
NG_031858.1:g.5282G>C
NG_054719.1:g.3010C>G
NM_001142571.2:c.26G>C
NM_002878.4:c.26G>CMANE SELECT
NM_133629.3:c.26G>C
NP_001136043.1:p.Cys9Ser
NP_002869.3:p.Cys9Ser
NP_002869.3:p.Cys9Ser
NP_598332.1:p.Cys9Ser
LRG_516t1:c.26G>C
LRG_516:g.5282G>C
LRG_516p1:p.Cys9Ser
NC_000017.10:g.33446607C>G
NM_001142571.1:c.26G>C
NM_002878.3:c.26G>C
NR_037711.2:n.171G>C
NR_037712.2:n.171G>C
p.C9S

Protein change:

C9S

Links:

dbSNP: rs140825795

NCBI 1000 Genomes Browser:

rs140825795

Molecular consequence:

NM_001142571.2:c.26G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002878.4:c.26G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133629.3:c.26G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_037711.2:n.171G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_037712.2:n.171G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000149721	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 9, 2023)	germline	clinical testing	Citation Link,
SCV000602155	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Aug 18, 2023)	unknown	clinical testing	PubMed (22) [See all records that cite these PMIDs] 22986143, 24130102, 26261251, 34117267, 31007844, 28135145, 25186627, 33203166, 29641532, 32885271, 30306255, 34923718, 37231433, 33606809, 35980532, 31206626, 21822267, 24139550, 25340522, 29522266, 33471991, 26467025
SCV000861249	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (May 29, 2018)	germline	clinical testing	Citation Link,
SCV002010056	Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 3, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004009783	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jul 1, 2023)	germline	clinical testing	Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Loss of function germline mutations in RAD51D in women with ovarian carcinoma.

Wickramanayake A, Bernier G, Pennil C, Casadei S, Agnew KJ, Stray SM, Mandell J, Garcia RL, Walsh T, King MC, Swisher EM.

Gynecol Oncol. 2012 Dec;127(3):552-5. doi: 10.1016/j.ygyno.2012.09.009. Epub 2012 Sep 14. Erratum in: Gynecol Oncol. 2014 Jan;132(1):260. Wickramanyake, Anneka [corrected to Wickramanayake, Anneka].

PubMed [citation]

PMID:: 22986143
PMCID:: PMC3905744

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.

Gutiérrez-Enríquez S, Bonache S, de Garibay GR, Osorio A, Santamariña M, Ramón y Cajal T, Esteban-Cardeñosa E, Tenés A, Yanowsky K, Barroso A, Montalban G, Blanco A, Cornet M, Gadea N, Infante M, Caldés T, Díaz-Rubio E, Balmaña J, Lasa A, Vega A, Benítez J, de la Hoya M, et al.

Int J Cancer. 2014 May 1;134(9):2088-97.

PubMed [citation]

PMID:: 24130102

See all PubMed Citations (23)

Details of each submission

From GeneDx, SCV000149721.20

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22986143, 28135145, 21822267, 24130102, 26261251, 24139550, 25340522, 27498913, 25186627, 29522266, 31007844, 34117267, 33471991, 36315097, 31206626, 34923718, 35264596, 21111057)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000602155.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (22)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000861249.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden, SCV002010056.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV004009783.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

Description

RAD51D: BP4, BS2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: May 7, 2024

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