rs12779247
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000445828.5(ANKRD26):c.562+4462A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0937 in 152,246 control chromosomes in the GnomAD database, including 794 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.094 ( 794 hom., cov: 32)
Consequence
ANKRD26
ENST00000445828.5 intron
ENST00000445828.5 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.677
Genes affected
ANKRD26 (HGNC:29186): (ankyrin repeat domain containing 26) This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.89).
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.268 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKRD26 | XM_006717425.5 | c.6085+5756A>G | intron_variant | ||||
ANKRD26 | XM_011519416.3 | c.6085+5756A>G | intron_variant | ||||
ANKRD26 | XM_017015928.2 | c.6085+5756A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD26 | ENST00000445828.5 | c.562+4462A>G | intron_variant | 5 | |||||
ANKRD26 | ENST00000674670.1 | c.489+5756A>G | intron_variant, NMD_transcript_variant | ||||||
ANKRD26 | ENST00000675439.1 | c.324+5756A>G | intron_variant, NMD_transcript_variant | ||||||
ANKRD26 | ENST00000675936.1 | c.1522+4456A>G | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0935 AC: 14217AN: 152128Hom.: 781 Cov.: 32
GnomAD3 genomes
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14217
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152128
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32
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GnomAD4 genome ? AF: 0.0937 AC: 14261AN: 152246Hom.: 794 Cov.: 32 AF XY: 0.0995 AC XY: 7404AN XY: 74446
GnomAD4 genome
?
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14261
AN:
152246
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32
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7404
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74446
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841
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3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at