NM_053281.3:c.527+58700T>C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_053281.3(DACH2):c.527+58700T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.205 in 111,088 control chromosomes in the GnomAD database, including 2,037 homozygotes. There are 6,428 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
Ensembl
Frequencies
GnomAD3 genomes AF: 0.205 AC: 22779AN: 111037Hom.: 2038 Cov.: 23 AF XY: 0.193 AC XY: 6414AN XY: 33297
GnomAD4 genome AF: 0.205 AC: 22788AN: 111088Hom.: 2037 Cov.: 23 AF XY: 0.193 AC XY: 6428AN XY: 33358
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at