Gene Variant Detail

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Gene RAD51D
Variant G258Sfs*50
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions RAD51D G258Sfs*50 indicates a shift in the reading frame starting at amino acid 258 and terminating 50 residues downstream causing a premature truncation of the 328 amino acid Rad51d protein (UniProt.org). G258Sfs*50 has been identified in the scientific literature (PMID: 28588062), but has not been biochemically characterized and therefore, its effect on Rad51d protein function is unknown (PubMed, Nov 2021).
Associated Drug Resistance

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Transcript NM_002878.3
gDNA chr17:g.(35101016_35101332)
cDNA c.(772_924)
Protein p.G258Sfs*50
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002878.3 chr17:g.(35101016_35101332) c.(772_924) p.G258Sfs*50 RefSeq GRCh38/hg38
NM_002878 chr17:g.(35101016_35101332) c.(772_924) p.G258Sfs*50 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51D G258Sfs*50 ovarian carcinoma sensitive Rucaparib Preclinical - Cell culture Actionable In a clinical study, an ovarian carcinoma patient harboring a RAD51D G258Sfs*50 germline mutation demonstrated stable disease when treated with Rubraca (rucaparib) (PMID: 28588062). 28588062
RAD51D S257_R259delinsK RAD51D G258Sfs*50 ovarian carcinoma predicted - resistant Rucaparib Case Reports/Case Series Actionable In a clinical case study, an ovarian carcinoma patient harboring a RAD51D G258Sfs*50 germline mutation developed resistance to Rubraca (rucaparib) after acquisition of RAD51D S257_R259delinsK (PMID: 28588062). 28588062
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
RAD51D G258Sfs*50 unknown
RAD51D S257_R259delinsK RAD51D G258Sfs*50