rs2297246
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_027270.1(ANKRD20A11P):n.281A>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.514 in 1,023,356 control chromosomes in the GnomAD database, including 110,573 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 0.66 ( 33827 hom., cov: 33)
Exomes 𝑓: 0.49 ( 76746 hom. )
Consequence
ANKRD20A11P
NR_027270.1 non_coding_transcript_exon
NR_027270.1 non_coding_transcript_exon
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.869
Genes affected
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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=-0.88).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.804 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKRD20A11P | NR_027270.1 | n.281A>C | non_coding_transcript_exon_variant | 1/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD20A11P | ENST00000344693.5 | n.274A>C | non_coding_transcript_exon_variant | 1/6 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.657 AC: 99827AN: 151960Hom.: 33752 Cov.: 33
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GnomAD4 exome AF: 0.489 AC: 425655AN: 871282Hom.: 76746 Cov.: 20 AF XY: 0.492 AC XY: 202503AN XY: 411332
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GnomAD4 genome ? AF: 0.657 AC: 99961AN: 152074Hom.: 33827 Cov.: 33 AF XY: 0.658 AC XY: 48924AN XY: 74336
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at