VCV002122542.4 - ClinVar

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

Germline

Classification

criteria provided, single submitter. Learn more about how ClinVar calculates review status.

Uncertain significance
Uncertain significance (1)

This classification is based on the single submission received

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

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

Variation ID: 2122542 Accession: VCV002122542.4

Type and length

Deletion, 8 bp

Location

Cytogenetic: 17q12 17: 35101016-35101023 (GRCh38) [ NCBI UCSC ] 17: 33428035-33428042 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Feb 8, 2023	Feb 23, 2026	Nov 22, 2021

HGVS

Nucleotide	Protein	Molecular consequence
NM_002878.4:c.917_924del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_002869.3:p.Gln306fs	frameshift
NM_001142571.2:c.977_984del	NP_001136043.1:p.Gln326fs	frameshift
NM_133629.3:c.581_588del	NP_598332.1:p.Gln194fs	frameshift
NR_037711.2:n.943_950del		non-coding transcript variant
NR_037712.2:n.808_815del		non-coding transcript variant
NC_000017.11:g.35101016_35101023del
NC_000017.10:g.33428035_33428042del
NG_031858.1:g.23847_23854del
LRG_516:g.23847_23854del
LRG_516t1:c.917_924del	LRG_516p1:p.Gln306Argfs

... more HGVS ... less HGVS

Protein change

Q306fs, Q326fs, Q194fs

Other names

Canonical SPDI

NC_000017.11:35101015:CATCTCCT:

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA2580093434 dbSNP: rs2509123121 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
RAD51D		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	34	2130
RAD51L3-RFFL	-	-	-	GRCh38	1	2127

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Breast-ovarian cancer, familial, susceptibility to, 4	Uncertain significance (1)	criteria provided, single submitter	Nov 22, 2021	RCV003054099.5

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	Expand all rows Collapse all rows Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Uncertain significance (Nov 22, 2021) C Contributing to aggregate classification	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Breast-ovarian cancer, familial, susceptibility to, 4	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV003340402.4 First in ClinVar: Feb 07, 2023 Last updated: Feb 23, 2026	Comment: show 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). (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Comment:

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).

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs2509123121 ...

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 Apr 13, 2026