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NM_002878.4(RAD51D):c.968delinsAAG (p.Leu323Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 5, 2019
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:
RCV001019623.2

Allele description [Variation Report for NM_002878.4(RAD51D):c.968delinsAAG (p.Leu323Ter)]

NM_002878.4(RAD51D):c.968delinsAAG (p.Leu323Ter)

Genes:
RAD51D:RAD51 paralog D [Gene - OMIM - HGNC]
RAD51L3-RFFL:RAD51L3-RFFL readthrough [Gene]
Variant type:
Indel
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_002878.4(RAD51D):c.968delinsAAG (p.Leu323Ter)
HGVS:
  • NC_000017.11:g.35100972delinsCTT
  • NG_031858.1:g.23898delinsAAG
  • NM_001142571.2:c.1028delinsAAG
  • NM_002878.4:c.968delinsAAGMANE SELECT
  • NM_133629.3:c.632delinsAAG
  • NP_001136043.1:p.Leu343Ter
  • NP_002869.3:p.Leu323Ter
  • NP_598332.1:p.Leu211Ter
  • LRG_516:g.23898delinsAAG
  • NC_000017.10:g.33427991delinsCTT
  • NM_002878.3:c.968delTinsAAG
  • NR_037711.2:n.994delinsAAG
  • NR_037712.2:n.859delinsAAG
Protein change:
L211*
Links:
dbSNP: rs1597855329
NCBI 1000 Genomes Browser:
rs1597855329
Molecular consequence:
  • NR_037711.2:n.994delinsAAG - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_037712.2:n.859delinsAAG - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001142571.2:c.1028delinsAAG - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002878.4:c.968delinsAAG - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133629.3:c.632delinsAAG - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001181005Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Apr 5, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001181005.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.968delTinsAAG variant, located in coding exon 10 of the RAD51D gene, results from the deletion of one nucleotide and insertion of 3 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.L323*). Premature stop codons are typically deleterious in nature, however, this stop codon occurs at the 3' terminus of RAD51D, is not expected to trigger nonsense-mediated mRNA decay, and removes only the last 6 amino acids of the protein. The exact functional impact of these removed amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023