NM_002878.4(RAD51D):c.917_924del (p.Gln306fs) AND Breast-ovarian cancer, familial, susceptibility to, 4

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 22, 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:: RCV003054099.5

Allele description [Variation Report for NM_002878.4(RAD51D):c.917_924del (p.Gln306fs)]

NM_002878.4(RAD51D):c.917_924del (p.Gln306fs)

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.917_924del (p.Gln306fs)

HGVS:

NC_000017.11:g.35101016_35101023del
NG_031858.1:g.23847_23854del
NM_001142571.2:c.977_984del
NM_002878.4:c.917_924delMANE SELECT
NM_133629.3:c.581_588del
NP_001136043.1:p.Gln326fs
NP_002869.3:p.Gln306Argfs
NP_002869.3:p.Gln306fs
NP_598332.1:p.Gln194fs
LRG_516t1:c.917_924del
LRG_516:g.23847_23854del
LRG_516p1:p.Gln306Argfs
NC_000017.10:g.33428035_33428042del
NM_002878.3:c.917_924delAGGAGATG
NR_037711.2:n.943_950del
NR_037712.2:n.808_815del

Protein change:

Q194fs

Links:

dbSNP: rs2509123121

Molecular consequence:

NM_001142571.2:c.977_984del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002878.4:c.917_924del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_133629.3:c.581_588del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_037711.2:n.943_950del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_037712.2:n.808_815del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 4
Identifiers:: MONDO: MONDO:0013669; MedGen: C3280345; Orphanet: 145; OMIM: 614291

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003340402	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 22, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003340402

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 22, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003340402.4

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

Description

Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. This sequence change creates a premature translational stop signal (p.Gln306Argfs*18) in the RAD51D gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 23 amino acid(s) of the RAD51D protein. This variant is not present in population databases (gnomAD no frequency).

#	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		not provided	not provided	not provided	not provided

Last Updated: Apr 12, 2026

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