rs200769141
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001395010.1(DAB2IP):āc.291C>Gā(p.Asp97Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. D97D) has been classified as Likely benign.
Frequency
Consequence
NM_001395010.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DAB2IP | ENST00000408936.8 | c.291C>G | p.Asp97Glu | missense_variant | Exon 3 of 16 | 5 | NM_001395010.1 | ENSP00000386183.3 | ||
DAB2IP | ENST00000259371.7 | c.207C>G | p.Asp69Glu | missense_variant | Exon 3 of 17 | 5 | ENSP00000259371.2 | |||
DAB2IP | ENST00000436835.6 | n.144+20606C>G | intron_variant | Intron 2 of 5 | 3 | ENSP00000409327.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000553 AC: 1AN: 180762Hom.: 0 AF XY: 0.00000976 AC XY: 1AN XY: 102438
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1330762Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 661970
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at