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ANKRD26
Final classification
Benign
ANKRD26 c.-140C>G · p.?
ANKRD26

The ANKRD26 c.-140C>G (NP_055730.2:p.?) variant has not been observed in somatic cancers in COSMIC and has been reported in ClinVar as Benign.

Gene
ANKRD26
Transcript
NM_014915.2
HGVS · transcript:coding
NM_014915.2:c.-140C>G
Consequence
N/A
GRCh38
chr10:27100466 G>C
GRCh37
chr10:27389395 G>C
Basis gene-specific framework lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback. ▾
gene-specific framework lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback.
Classification rationale
BA1BS1 Benign
ANKRD26 c.-140C>G

The ANKRD26 c.-140C>G (NP_055730.2:p.?) variant has not been observed in somatic cancers in COSMIC and has been reported in ClinVar as Benign.1 This variant is common in population databases, with allele frequencies of 0.0640054 (6.40054%) in gnomAD v2.1 and 0.0478907 (4.78907%) in gnomAD v4.1, which are well above benign thresholds.2 In silico splice prediction does not support a splice-altering effect, with a SpliceAI maximum delta score of 0.07.3

BA1 + BS1 → Benign
1 clinvar ↗
2 gnomad_v2 ↗gnomad_v4 ↗
3 spliceai ↗
Gene diagram · NM_014915.2 · variants mapped to exon structure
ANKRD26 NM_014915.2
Fetching transcript structure from UCSC…
Applied criteria · 2 met · select any tile
Met
Not met
Not assessed
N/A
Strength very strong supporting
Pathogenic evidence
PVS
PS
PM
PP
Benign evidence
BA
BS
BP
—
—
—
Rationale
Select a criterion.
Sources
Evidence used
    Gaps remaining
      Rule
      —
      Research & evidence
      Population frequency · supports benign
      gnomAD v4.1 screenshot
      gnomAD v4.1
      gnomAD v2.1 screenshot
      gnomAD v2.1
      v4.1
      This variant is present in gnomAD v4.1 (AF= 0.0478907; MAF= 4.78907%, 62124/1297204 alleles, homozygotes = 1684) and has highest observed frequency in the African/African American population (AF= 0.0837021; MAF= 8.37021%, 5637/67346 alleles, homozygotes = 245); grpmax FAF= 0.0818764.
      v2.1
      This variant is present in gnomAD v2.1 (AF= 0.0640054; MAF= 6.40054%, 2009/31388 alleles, homozygotes = 69) and has highest observed frequency in the African/African American population (AF= 0.0853042; MAF= 8.53042%, 743/8710 alleles, homozygotes = 34); grpmax FAF= 0.0802218.
      Allele frequency by ancestry
      three datasets · side by side
      gnomAD v4.1
      4.8% · 62124 / 1,297,204
      1684 hom · FAF 8.2%
      African/African American
      5637 / 67,346
      8.4%
      245 hom
      Ashkenazi Jewish
      1595 / 22,702
      7%
      42 hom
      European (Finnish)
      2280 / 42,134
      5.4%
      53 hom
      European (non-Finnish)
      46842 / 960,288
      4.9%
      1212 hom
      Remaining individuals
      2409 / 51,146
      4.7%
      56 hom
      Middle Eastern
      162 / 3,700
      4.4%
      6 hom
      South Asian
      2093 / 69,972
      3%
      53 hom
      Admixed American
      1007 / 38,008
      2.6%
      15 hom
      Amish
      20 / 908
      2.2%
      1 hom
      East Asian
      79 / 41,000
      0.19%
      1 hom
      gnomAD v2.1
      6.4% · 2009 / 31,388
      69 hom · FAF 8%
      African/African American
      743 / 8,710
      8.5%
      34 hom
      Ashkenazi Jewish
      22 / 288
      7.6%
      Remaining individuals
      71 / 1,088
      6.5%
      2 hom
      European (non-Finnish)
      957 / 15,420
      6.2%
      26 hom
      European (Finnish)
      191 / 3,474
      5.5%
      7 hom
      Admixed American
      21 / 848
      2.5%
      East Asian
      4 / 1,560
      0.26%
      + 1 not observed (South Asian)
      gnomAD v4 ↗ gnomAD v2 ↗
      ClinVar screenshot
      ClinVar
      This variant has been reported in ClinVar as Benign (8 clinical laboratories).
      ClinVar ↗
      SpliceAI screenshot
      In silico
      SpliceAI predicts no significant splice impact for this variant (max delta score = 0.07).
      SpliceAI ↗
      Functional No data
      No calibrated functional assay or RNA evidence was identified for this variant.
      OncoKB ↗
      COSMIC screenshot
      COSMIC
      Somatic evidence
      COSMIC
      This variant has not previously been reported in somatic cancers (COSMIC).
      Hotspots
      This variant does not lie in a statistically significant cancer hotspot.
      COSMIC ↗
      Sources & reference links
      6Sources
      ClinVar
      gnomAD v2.1
      gnomAD v4.1
      SpliceAI
      OncoKB
      COSMIC