rs5923575
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000373125.9(DACH2):c.641-20008C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.256 in 111,360 control chromosomes in the GnomAD database, including 3,652 homozygotes. There are 8,157 hemizygotes in GnomAD. 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
Consequence
ENST00000373125.9 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DACH2 | NM_053281.3 | c.641-20008C>T | intron_variant | ENST00000373125.9 | NP_444511.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DACH2 | ENST00000373125.9 | c.641-20008C>T | intron_variant | 1 | NM_053281.3 | ENSP00000362217 | A2 |
Frequencies
GnomAD3 genomes AF: 0.256 AC: 28512AN: 111302Hom.: 3658 Cov.: 23 AF XY: 0.243 AC XY: 8153AN XY: 33522
GnomAD4 genome AF: 0.256 AC: 28491AN: 111360Hom.: 3652 Cov.: 23 AF XY: 0.243 AC XY: 8157AN XY: 33588
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at