rs10497804
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001195144.2(ANKRD44):c.28-3128T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.224 in 152,108 control chromosomes in the GnomAD database, including 3,997 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 0.22 ( 3997 hom., cov: 32)
Consequence
ANKRD44
NM_001195144.2 intron
NM_001195144.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.863
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=-0.81).
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.245 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKRD44 | NM_001195144.2 | c.28-3128T>C | intron_variant | ENST00000282272.15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD44 | ENST00000282272.15 | c.28-3128T>C | intron_variant | 5 | NM_001195144.2 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.224 AC: 34015AN: 151988Hom.: 4000 Cov.: 32
GnomAD3 genomes
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34015
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151988
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32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.224 AC: 34015AN: 152108Hom.: 3997 Cov.: 32 AF XY: 0.225 AC XY: 16716AN XY: 74348
GnomAD4 genome
?
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AC:
34015
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152108
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32
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16716
AN XY:
74348
Gnomad4 AFR
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617
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at