B2M S14fs
Gene Variant Detail

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Gene B2M
Variant S14fs
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions B2M S14fs results in a change in the amino acid sequence of the B2m protein beginning at aa 14 of 119, likely resulting in premature truncation of the functional protein (UniProt.org). S14fs confers a loss of function to the B2m protein as demonstrated by lack of MHC class I membrane localization (PMID: 27433843, PMID: 29070816).
Associated Drug Resistance Y
Category Variants Paths

B2M mutant B2M inact mut B2M S14fs

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Transcript NM_004048.4
gDNA chr15:g.(44711585_44711586)
cDNA c.(40_39)
Protein p.S14fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004048 chr15:g.(44711585_44711586) c.(40_39) p.S14fs RefSeq GRCh38/hg38
XM_005254549.3 chr15:g.(44711585_44711586) c.(40_39) p.S14fs RefSeq GRCh38/hg38
NM_004048.4 chr15:g.(44711585_44711586) c.(40_39) p.S14fs RefSeq GRCh38/hg38
NM_004048.2 chr15:g.(44711585_44711586) c.(40_39) p.S14fs RefSeq GRCh38/hg38
XM_005254549 chr15:g.(44711585_44711586) c.(40_39) p.S14fs RefSeq GRCh38/hg38
XM_005254549.4 chr15:g.(44711585_44711586) c.(40_39) p.S14fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "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
B2M S14fs melanoma predicted - resistant Pembrolizumab Case Reports/Case Series Actionable In a clinical study, a melanoma patient treated with Keytruda (pembrolizumab) initially demonstrated a partial response, however, post 453 days, developed disease progression likely due to the secondary resistance mutation, B2M S14fs (PMID: 27433843). 27433843