rs852778
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_021080.5(DAB1):c.-211+54961G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.602 in 151,874 control chromosomes in the GnomAD database, including 27,786 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 0.60 ( 27786 hom., cov: 32)
Consequence
DAB1
NM_021080.5 intron
NM_021080.5 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.10
Genes affected
DAB1 (HGNC:2661): (DAB adaptor protein 1) The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. [provided by RefSeq, Jan 2017]
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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=-0.83).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.669 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DAB1 | NM_001379462.1 | c.-211+54961G>T | intron_variant | Intron 3 of 17 | NP_001366391.1 | |||
DAB1 | NM_021080.5 | c.-211+54961G>T | intron_variant | Intron 2 of 16 | NP_066566.3 | |||
DAB1 | NM_001379461.1 | c.-211+54961G>T | intron_variant | Intron 6 of 20 | NP_001366390.1 | |||
DAB1 | NM_001353980.2 | c.-211+54961G>T | intron_variant | Intron 3 of 5 | NP_001340909.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.602 AC: 91349AN: 151756Hom.: 27733 Cov.: 32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.602 AC: 91449AN: 151874Hom.: 27786 Cov.: 32 AF XY: 0.602 AC XY: 44658AN XY: 74206
GnomAD4 genome
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1869
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3476
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