NM_002878.4(RAD51D):c.564_567del (p.Val189fs) AND Deleterious RAD51D Gene Mutation

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 24, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001838814.3

Allele description [Variation Report for NM_002878.4(RAD51D):c.564_567del (p.Val189fs)]

NM_002878.4(RAD51D):c.564_567del (p.Val189fs)

Genes:

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

Variant type:

Deletion

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_002878.4(RAD51D):c.564_567del (p.Val189fs)

HGVS:

NC_000017.11:g.35106395_35106398del
NG_031858.1:g.18472_18475del
NM_001142571.2:c.624_627del
NM_002878.4:c.564_567delMANE SELECT
NM_133629.3:c.228_231del
NP_001136043.1:p.Val209fs
NP_002869.3:p.Val189fs
NP_598332.1:p.Val77fs
LRG_516:g.18472_18475del
NC_000017.10:g.33433414_33433417del
NR_037711.2:n.590_593del
NR_037712.2:n.455_458del
NR_037714.1:n.316_319del

Protein change:

V189fs

Links:

dbSNP: rs2142428876

NCBI 1000 Genomes Browser:

rs2142428876

Molecular consequence:

NM_001142571.2:c.624_627del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002878.4:c.564_567del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133629.3:c.228_231del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_037711.2:n.590_593del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_037712.2:n.455_458del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_037714.1:n.316_319del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Deleterious RAD51D Gene Mutation
Identifiers:: MedGen: C4329712

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001806921	Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 24, 2021)	germline	research	PubMed (2) [See all records that cite these PMIDs] 26261251, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001806921

Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 24, 2021)

germline

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

Song H, Dicks E, Ramus SJ, Tyrer JP, Intermaggio MP, Hayward J, Edlund CK, Conti D, Harrington P, Fraser L, Philpott S, Anderson C, Rosenthal A, Gentry-Maharaj A, Bowtell DD, Alsop K, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Høgdall E, et al.

J Clin Oncol. 2015 Sep 10;33(26):2901-7. doi: 10.1200/JCO.2015.61.2408. Epub 2015 Aug 10.

PubMed [citation]

PMID:: 26261251
PMCID:: PMC4554751

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge, SCV001806921.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (2)

#	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

Last Updated: Jun 23, 2024

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