X-86624851-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_053281.3(DACH2):c.641-26185T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.144 in 110,924 control chromosomes in the GnomAD database, including 1,016 homozygotes. There are 4,831 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
NM_053281.3 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 | UniProt |
---|---|---|---|---|---|---|---|
DACH2 | NM_053281.3 | c.641-26185T>C | intron_variant | ENST00000373125.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DACH2 | ENST00000373125.9 | c.641-26185T>C | intron_variant | 1 | NM_053281.3 | A2 |
Frequencies
GnomAD3 genomes AF: 0.144 AC: 15965AN: 110871Hom.: 1017 Cov.: 22 AF XY: 0.146 AC XY: 4828AN XY: 33073
GnomAD4 genome AF: 0.144 AC: 15960AN: 110924Hom.: 1016 Cov.: 22 AF XY: 0.146 AC XY: 4831AN XY: 33136
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at